AKT1 (AKT serine/threonine kinase 1) - Rat Genome Database

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Gene: AKT1 (AKT serine/threonine kinase 1) Homo sapiens
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Symbol: AKT1
Name: AKT serine/threonine kinase 1
RGD ID: 732909
HGNC Page HGNC:391
Description: Enables several functions, including 14-3-3 protein binding activity; anion binding activity; and protein kinase activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of macromolecule metabolic process; and regulation of protein localization. Acts upstream of or within activation-induced cell death of T cells and intracellular signal transduction. Located in several cellular components, including cytosol; microtubule cytoskeleton; and nucleoplasm. Part of protein-containing complex. Is active in cytoplasm and membrane. Implicated in several diseases, including Cowden syndrome 6; breast cancer (multiple); colorectal cancer (multiple); pancreatic cancer (multiple); and reproductive organ cancer (multiple). Biomarker of several diseases, including coronary artery disease (multiple); gastrointestinal system cancer (multiple); lung disease (multiple); malignant astrocytoma; and urinary system cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AKT; AKT1m; CWS6; MGC99656; PKB; PKB alpha; PKB-ALPHA; PRKBA; protein kinase B; protein kinase B alpha; proto-oncogene c-Akt; RAC; rac protein kinase alpha; RAC-ALPHA; RAC-alpha serine/threonine-protein kinase; RAC-PK-alpha; serine-threonine protein kinase; v-akt murine thymoma viral oncogene homolog 1; v-akt murine thymoma viral oncogene-like protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814104,769,349 - 104,795,748 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14104,769,349 - 104,795,751 (-)EnsemblGRCh38hg38GRCh38
GRCh3714105,235,686 - 105,262,085 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614104,306,731 - 104,333,125 (-)NCBINCBI36Build 36hg18NCBI36
Build 3414104,306,752 - 104,330,608NCBI
Celera1485,290,760 - 85,317,154 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1485,432,617 - 85,464,212 (-)NCBIHuRef
CHM1_114105,173,739 - 105,200,089 (-)NCBICHM1_1
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
acute promyelocytic leukemia  (EXP)
adenocarcinoma  (EXP)
Alzheimer's disease  (ISO)
amphetamine abuse  (EXP)
amyotrophic lateral sclerosis  (ISO)
Animal Disease Models  (EXP)
atherosclerosis  (ISO)
autosomal recessive polycystic kidney disease  (ISO)
bipolar disorder  (IAGP)
bone osteosarcoma  (IAGP)
Brain Injuries  (IEP)
brain ischemia  (ISO)
breast adenocarcinoma  (IAGP)
breast cancer  (IAGP)
Breast Cancer, Familial  (IAGP)
Breast Neoplasms  (EXP,IAGP,IEP,TAS)
Calcification of Aortic Valve  (EXP)
cannabis abuse  (EXP)
Carcinogenesis  (EXP)
cardiac arrest  (ISO)
Cardiomegaly  (EXP,ISO)
cardiomyopathy  (EXP)
Charcot-Marie-Tooth disease axonal type 2O  (IAGP)
chronic myeloid leukemia  (IDA)
colon cancer  (IEP,IMP,ISO)
colon carcinoma  (IAGP)
colorectal cancer  (IAGP,IDA,IEP)
Colorectal Neoplasms  (EXP,IAGP,TAS)
coronary artery disease  (ISO)
Cowden syndrome 6  (EXP,IAGP)
Diabetic Cardiomyopathies  (ISO)
diabetic retinopathy  (ISO)
Endometrioid Carcinomas  (IAGP)
Endotoxemia  (ISO)
epilepsy  (EXP)
esophageal cancer  (IEP)
esophagus squamous cell carcinoma  (IEP)
Experimental Arthritis  (ISO)
Experimental Colitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Mammary Neoplasms  (ISO)
familial adenomatous polyposis  (EXP)
Fibrosis  (EXP)
focal segmental glomerulosclerosis 5  (IAGP)
gastric adenocarcinoma  (IAGP)
genetic disease  (IAGP)
glioblastoma  (ISO)
head and neck squamous cell carcinoma  (EXP,IAGP)
hepatocellular carcinoma  (EXP,IAGP,ISO)
Hepatomegaly  (EXP)
Hereditary Neoplastic Syndromes  (IAGP)
Hyperplasia  (EXP)
hypertension  (ISO)
Hypertriglyceridemia  (EXP)
idiopathic pulmonary fibrosis  (IEP)
impotence  (ISO)
in situ carcinoma  (IEP)
Inflammation  (EXP,ISO)
intermediate coronary syndrome  (IEP)
Intervertebral Disc Displacement  (IEP)
invasive ductal carcinoma  (IAGP)
Kidney Neoplasms  (IEP)
lung adenocarcinoma  (IAGP)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (IAGP,IEP,TAS)
lung oat cell carcinoma  (IAGP)
lung small cell carcinoma  (IAGP)
lung squamous cell carcinoma  (IAGP)
Macrocephaly Mesodermal Hamartoma Spectrum  (IAGP)
malignant astrocytoma  (IEP)
melanoma  (IAGP)
Memory Disorders  (ISO)
Meningeal Neoplasms  (IAGP)
meningioma  (EXP)
muscular atrophy  (EXP)
myocardial infarction  (IEP,ISO)
Myocardial Reperfusion Injury  (ISO)
Neointima  (ISO)
obesity  (EXP)
osteosarcoma  (IAGP)
ovarian cancer  (IAGP)
Ovarian Neoplasms  (EXP,IAGP,TAS)
Pain  (EXP)
pancreatic cancer  (IDA,IEP)
pancreatic intraductal papillary-mucinous neoplasm  (IAGP)
paraplegia  (ISO)
Parkinson's disease  (IAGP,IEP)
pre-malignant neoplasm  (EXP)
prostate adenocarcinoma  (IAGP,IMP)
prostate cancer  (IAGP)
Prostatic Neoplasms  (EXP,IAGP)
Proteus syndrome  (EXP,IAGP,ISS)
pulmonary tuberculosis  (IAGP)
renal cell carcinoma  (IEP)
Reperfusion Injury  (ISO)
Right Ventricular Hypertrophy  (ISO)
schizophrenia  (EXP,IAGP,IEP,ISS)
skin melanoma  (IAGP)
Skin Neoplasms  (EXP)
Spinal Cord Injuries  (ISO)
squamous cell carcinoma  (EXP,IAGP)
Staphylococcal Pneumonia  (ISO)
steatotic liver disease  (EXP)
Stroke  (ISO)
substance-induced psychosis  (EXP)
T-cell non-Hodgkin lymphoma  (EXP)
Thyroid Neoplasms  (IAGP)
transitional cell carcinoma  (IAGP)
type 2 diabetes mellitus  (EXP,ISO)
ureteral obstruction  (ISO)
urinary bladder cancer  (EXP,IEP)
Uterine Cervical Neoplasms  (IAGP)
Ventilator-Induced Lung Injury  (ISO)
vulva cancer  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP,ISO)
(+)-epicatechin-3-O-gallate  (EXP)
(+)-Eudesmin  (EXP)
(+)-pilocarpine  (ISO)
(+)-taxifolin  (ISO)
(+)-Tetrandrine  (EXP)
(-)-alpha-phellandrene  (EXP)
(-)-Arctigenin  (EXP)
(-)-cotinine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(-)-gambogic acid  (EXP)
(-)-selegiline  (ISO)
(-)-trans-epsilon-viniferin  (EXP)
(20S)-ginsenoside Rh2  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (EXP)
(3,4-dihydroxyphenyl)acetic acid  (ISO)
(R)-adrenaline  (EXP)
(R)-carnitine  (ISO)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(R)-salsolinol  (ISO)
(R,R,R)-alpha-tocopherol  (EXP,ISO)
(S)-naringenin  (EXP,ISO)
(S)-nicotine  (EXP,ISO)
(S)-ropivacaine  (EXP)
(Z)-ligustilide  (EXP,ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (EXP)
1,3-Dinitropyrene  (ISO)
1,4-dithiothreitol  (EXP)
1,4-naphthoquinone  (EXP)
1,8-Dinitropyrene  (ISO)
1-[(2,3,4-trimethoxyphenyl)methyl]piperazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
1-fluoro-2,4-dinitrobenzene  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-monopalmitoylglycerol  (EXP)
1-naphthyl isothiocyanate  (ISO)
1-nitropyrene  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (EXP,ISO)
14,15-EET  (EXP)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
16,16-dimethylprostaglandin E2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 17-glucosiduronic acid  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,5-hexanedione  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-acetamidofluorene  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP,ISO)
2-chloroethanol  (ISO)
2-methoxy-17beta-estradiol  (EXP)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
2-methylcholine  (EXP)
2-tert-butylhydroquinone  (ISO)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (EXP,ISO)
2-trans,6-trans-farnesyl diphosphate  (ISO)
20-hydroxyecdysone  (ISO)
26-hydroxycholesterol  (EXP)
28-Homobrassinolide  (ISO)
3',5'-cyclic GMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-hydroxyisovaleric acid  (ISO)
3-iodobenzyl-5'-N-methylcarboxamidoadenosine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methyladenine  (EXP)
3-methylcholanthrene  (ISO)
3-methylglutaric acid  (ISO)
3-Nitrobenzanthrone  (EXP)
3-Nitrofluoranthene  (ISO)
3-nitropropanoic acid  (ISO)
3-phenylprop-2-enal  (EXP,ISO)
4'-epidoxorubicin  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP,ISO)
4-\{[4-(dimethylamino)phenyl]diazenyl\}phenyl-beta-lactoside  (ISO)
4-aminophenol  (EXP)
4-hydroxy-17beta-estradiol  (EXP)
4-hydroxy-TEMPO  (ISO)
4-hydroxynon-2-enal  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
4-nitroquinoline N-oxide  (ISO)
4-nonylphenol  (ISO)
4-phenylbutyric acid  (EXP,ISO)
4-vinylcyclohexene dioxide  (ISO)
5'-S-methyl-5'-thioadenosine  (EXP)
5-(2-chloroethyl)-4-methylthiazole  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
5-chloro-7-iodoquinolin-8-ol  (EXP)
5-fluorouracil  (EXP,ISO)
5-Hydroxycapric acid  (ISO)
5-methoxypsoralen  (EXP,ISO)
6,7-dimethoxy-2-phenylquinoxaline  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (ISO)
7,12-dimethyltetraphene  (ISO)
7-ketocholesterol  (ISO)
8-(4-chlorophenylthio)-cAMP  (ISO)
8-Br-cAMP  (EXP)
9,10-anthraquinone  (EXP)
9-cis-retinoic acid  (EXP,ISO)
[6]-Shogaol  (EXP,ISO)
abamectin  (EXP)
ABT-737  (EXP)
acadesine  (ISO)
acetic acid  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP,ISO)
acrylamide  (ISO)
actinomycin D  (EXP,ISO)
afatinib  (EXP)
afimoxifene  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
agmatine  (EXP)
AH23848  (EXP)
AICA ribonucleotide  (ISO)
alachlor  (ISO)
albiflorin  (EXP)
alcohol  (EXP)
aldehydo-D-glucosamine  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
allethrin  (EXP,ISO)
alloxan  (ISO)
allyl isothiocyanate  (EXP)
alpha-mangostin  (EXP)
alpha-naphthoflavone  (ISO)
alpha-phellandrene  (EXP)
aluminium hydroxide  (ISO)
alvocidib  (EXP)
AM-251  (EXP,ISO)
amidotrizoic acid  (EXP)
amiloride  (EXP)
amiodarone  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amosite asbestos  (ISO)
amoxicillin  (ISO)
amphetamine  (ISO)
anethole  (EXP)
angelicin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
antigen  (ISO)
ANTIMYCIN  (ISO)
antimycin A  (EXP,ISO)
Antrocin  (EXP)
apigenin  (EXP)
apocynin  (EXP)
arachidonic acid  (ISO)
arachidonyl-2'-chloroethylamide  (ISO)
arecoline  (EXP,ISO)
Arg-Gly-Asp  (ISO)
aristolochic acid A  (ISO)
aristolochic acids  (EXP)
arotinoid acid  (EXP)
ARS-1620  (EXP)
arsane  (EXP,ISO)
arsenic acid  (ISO)
arsenic atom  (EXP,ISO)
arsenic trichloride  (EXP,ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
aspartame  (EXP)
astaxanthin  (ISO)
astilbin  (EXP)
astragaloside IV  (ISO)
atorvastatin calcium  (EXP,ISO)
ATP  (EXP)
Atpenin A5  (ISO)
atrazine  (EXP)
aucubin  (EXP,ISO)
aureusidin  (ISO)
Auriculasin  (EXP)
avermectin  (EXP)
azathioprine  (EXP)
AZD4547  (EXP)
azoxystrobin  (EXP)
baicalein  (EXP)
BAPTA  (ISO)
Bardoxolone methyl  (ISO)
Bavachinin  (EXP)
bazedoxifene  (EXP)
belinostat  (EXP)
bellidifolin  (ISO)
benomyl  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP,ISO)
benzo[e]pyrene  (EXP)
benzophenanthridine  (EXP)
benzyl isothiocyanate  (EXP)
berberine  (EXP,ISO)
beta-carotene  (EXP)
beta-cyclodextrin  (EXP)
beta-D-glucosamine  (EXP,ISO)
betalain  (EXP)
Betanin  (EXP)
betulin  (EXP)
betulinic acid  (EXP)
bezafibrate  (ISO)
bicalutamide  (EXP)
bilirubin IXalpha  (EXP)
biliverdin  (EXP)
biotin  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisdemethoxycurcumin  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
BMS-754807  (EXP)
boric acid  (ISO)
bortezomib  (EXP)
bosutinib  (ISO)
brefeldin A  (ISO)
bufalin  (EXP)
butan-1-ol  (EXP,ISO)
butein  (EXP)
Butylbenzyl phthalate  (EXP,ISO)
butyric acid  (EXP)
C.I. Natural Red 20  (EXP)
Cacalol  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
calcidiol  (EXP)
Calcimycin  (ISO)
calcitriol  (EXP,ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
calix[6]arene  (EXP)
calyculin a  (EXP)
camptothecin  (EXP)
candesartan  (ISO)
cannabidiol  (EXP,ISO)
cannabigerol  (ISO)
cantharidin  (EXP)
capecitabine  (EXP)
capivasertib  (EXP)
capsaicin  (EXP,ISO)
capsazepine  (EXP,ISO)
captan  (ISO)
captopril  (EXP)
carbamazepine  (EXP)
CARBENOXOLONE  (EXP)
carbon monoxide  (EXP,ISO)
carbon nanotube  (ISO)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (ISO)
carboplatin  (ISO)
carmustine  (EXP,ISO)
carnosic acid  (EXP)
carnosine  (ISO)
carrageenan  (ISO)
carvedilol  (ISO)
casticin  (ISO)
CEDRELONE  (EXP)
celastrol  (EXP,ISO)
celecoxib  (EXP,ISO)
ceric oxide  (EXP)
ceritinib  (EXP)
ceruletide  (ISO)
chaetoglobosin A  (ISO)
chicoric acid  (ISO)
CHIR 99021  (EXP)
chitosan  (EXP,ISO)
chlordecone  (ISO)
chloroethene  (ISO)
chlorogenic acid  (ISO)
chlorohydrocarbon  (EXP)
chloroquine  (EXP,ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
chromium atom  (ISO)
chromium(6+)  (EXP,ISO)
chromones  (EXP)
chrysin  (EXP)
chrysophanol  (EXP)
cilostazol  (EXP,ISO)
ciprofloxacin  (EXP)
cisplatin  (EXP,ISO)
citalopram  (EXP)
Citreoviridin  (ISO)
clenbuterol  (ISO)
clozapine  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
colforsin daropate hydrochloride  (ISO)
colistin  (EXP,ISO)
copanlisib  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(I) chloride  (EXP)
copper(II) sulfate  (EXP,ISO)
coptisine  (EXP,ISO)
cordycepin  (EXP,ISO)
corilagin  (EXP,ISO)
corticosterone  (ISO)
cortisol  (ISO)
coumarin  (EXP)
crizotinib  (EXP)
crocidolite asbestos  (EXP,ISO)
Cruentaren A  (EXP)
cucurbitacin E  (EXP)
curcumin  (EXP,ISO)
cyclizine  (ISO)
cycloheximide  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
Cyclosporin H  (EXP)
cyfluthrin  (EXP)
cyhalothrin  (ISO)
cypermethrin  (EXP,ISO)
D-aspartic acid  (ISO)
D-glucose  (EXP,ISO)
dactolisib  (EXP,ISO)
dapagliflozin  (ISO)
DAPT  (EXP)
daunorubicin  (EXP)
deferiprone  (ISO)
deguelin  (EXP,ISO)
demethoxycurcumin  (EXP,ISO)
demethoxyfumitremorgin C  (EXP)
deoxynivalenol  (EXP,ISO)
Deoxyschizandrin  (EXP)
desferrioxamine B  (EXP,ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dextromethorphan  (ISO)
Di-n-octyl phthalate  (ISO)
diallyl disulfide  (EXP)
diallyl trisulfide  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
diazoxide  (ISO)
dibenziodolium  (EXP,ISO)
dibenzoylmethane  (ISO)
dibutyl phthalate  (EXP,ISO)
dibutylstannane  (ISO)
dichlorine  (ISO)
dichloromethane  (ISO)
diclofenac  (EXP)
Dictamnine  (EXP)
Dicyclohexyl phthalate  (ISO)
Didymin  (EXP)
dieckol  (EXP)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dihydro-beta-erythroidine  (EXP)
dihydrolipoamide  (ISO)
dihydrolipoic acid  (ISO)
Dihydrotanshinone I  (EXP)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (EXP,ISO)
Dinitramine  (ISO)
dioscin  (EXP,ISO)
diosgenin  (EXP)
dioxygen  (EXP,ISO)
dipentyl phthalate  (ISO)
diprotium oxide  (ISO)
diquat  (ISO)
disodium cromoglycate  (ISO)
disodium selenite  (EXP,ISO)
disulfiram  (EXP)
dithionite(2-)  (ISO)
divinyl sulfone  (EXP)
dobutamine  (EXP,ISO)
dodecanoic acid  (ISO)
Doramectin  (ISO)
dorsomorphin  (EXP,ISO)
doxazosin  (ISO)
doxepin  (ISO)
doxorubicin  (EXP,ISO)
eckol  (EXP)
edaravone  (ISO)
elemental selenium  (EXP,ISO)
ellagic acid  (EXP,ISO)
embelin  (EXP,ISO)
emodin  (EXP,ISO)
enalapril  (ISO)
endosulfan  (EXP,ISO)
equol  (EXP)
ergothioneine  (ISO)
erlotinib hydrochloride  (EXP,ISO)
Erucin  (EXP)
esculetin  (EXP)
estrogen  (ISO)
estrone  (EXP)
ethanol  (EXP,ISO)
ethyl trans-caffeate  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
etoposide  (EXP)
etoxazole  (ISO)
everolimus  (EXP)
Evodiamine  (EXP,ISO)
excitatory amino acid agonist  (ISO)
farnesyl diphosphate  (ISO)
fasudil  (ISO)
fenpyroximate  (EXP)
fenvalerate  (EXP)
ferric ammonium citrate  (EXP)
ferric oxide  (ISO)
ferulic acid  (ISO)
filipin III  (EXP,ISO)
finasteride  (ISO)
fingolimod hydrochloride  (EXP)
fisetin  (EXP,ISO)
flavokawain B  (EXP)
flufenoxuron  (ISO)
fluorometholone  (EXP)
flurbiprofen  (ISO)
flutamide  (EXP,ISO)
fluvastatin  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
formononetin  (EXP)
FR900359  (EXP)
fraxetin  (ISO)
frenolicin B  (EXP)
fructose  (ISO)
fucoxanthin  (EXP,ISO)
fulvestrant  (EXP,ISO)
furazolidone  (EXP)
furosemide  (ISO)
Fusaric acid  (ISO)
gadodiamide hydrate  (EXP)
galangin  (EXP)
gallein  (ISO)
gallic acid  (EXP)
gallocatechin  (EXP)
gamma-aminobutyric acid  (ISO)
gamma-hexachlorocyclohexane  (ISO)
Garcinol  (EXP)
gefitinib  (EXP,ISO)
geldanamycin  (EXP)
gemcitabine  (EXP)
gemfibrozil  (ISO)
Genipin  (EXP)
Geniposide  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
Geraniin  (ISO)
GGTI-2133  (ISO)
Gingerenone A  (EXP,ISO)
gingerol  (EXP)
ginkgolide B  (EXP)
ginsenoside Rb1  (EXP)
ginsenoside Rd  (ISO)
ginsenoside Re  (ISO)
ginsenoside Rg1  (EXP,ISO)
ginsenoside Rg2  (ISO)
Ginsenoside Rh4  (ISO)
glucose  (EXP,ISO)
glutathione  (EXP)
glyburide  (ISO)
glycerol  (ISO)
glycerol 2-phosphate  (EXP)
glycidol  (ISO)
glycyrrhizinic acid  (ISO)
glyphosate  (EXP)
Goe 6976  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GSK690693  (EXP)
gypenoside LXXV  (ISO)
haloperidol  (ISO)
hellebrigenin  (EXP)
hemin  (EXP)
heparin  (ISO)
hesperetin  (ISO)
hesperidin  (ISO)
hexachlorobenzene  (ISO)
hexadecanoic acid  (EXP,ISO)
high-density lipoprotein cholesterol  (EXP)
Hispolon  (EXP)
homocysteine  (ISO)
hyaluronic acid  (ISO)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (ISO)
hydroquinone  (EXP,ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
hydroxyflutamide  (ISO)
hydroxytyrosol  (ISO)
IC-87114  (EXP,ISO)
icariin  (ISO)
icariside II  (EXP)
idelalisib  (EXP,ISO)
imiquimod  (EXP,ISO)
indole-3-methanol  (EXP)
indometacin  (EXP,ISO)
insulin  (EXP)
iodixanol  (EXP)
ionomycin  (EXP)
irbesartan  (ISO)
iron atom  (ISO)
iron dextran  (ISO)
iron(0)  (ISO)
iron(2+) sulfate (anhydrous)  (ISO)
isoflurane  (ISO)
Isoliensinine  (EXP)
isoliquiritigenin  (EXP,ISO)
isoorientin  (EXP)
isoprenaline  (ISO)
isorhamnetin  (ISO)
ivermectin  (EXP)
JTE-013  (ISO)
kaempferol  (EXP,ISO)
kahweol  (EXP)
Kalafungin  (EXP)
ketanserin  (ISO)
Kirenol  (EXP)
KN-93  (EXP,ISO)
kojic acid  (EXP)
KT 5720  (ISO)
Ku-0063794  (EXP)
Kukoamine B  (EXP,ISO)
L-1,4-dithiothreitol  (EXP)
L-ascorbic acid  (ISO)
L-ascorbic acid 2-phosphate  (EXP)
L-cysteine  (ISO)
L-gamma-glutamyl-L-cysteine  (ISO)
L-glutamic acid  (ISO)
L-methionine  (ISO)
L-threonine  (EXP)
lactacystin  (EXP)
lapatinib  (EXP)
lead diacetate  (EXP,ISO)
lead(0)  (EXP,ISO)
leptomycin B  (EXP)
letrozole  (ISO)
leukotriene B4  (EXP)
leupeptin  (EXP)
leuprolide  (EXP)
Licochalcone A  (EXP)
licoricidin  (EXP)
Liensinine  (EXP)
linalool  (EXP)
linsidomine  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
lipoteichoic acid  (ISO)
liraglutide  (EXP)
lithium atom  (EXP)
lithium chloride  (EXP,ISO)
lithium hydride  (EXP)
LM-1685  (EXP)
loliolide  (EXP)
lonafarnib  (EXP)
lonidamine  (EXP)
lovastatin  (EXP,ISO)
Lupalbigenin  (EXP)
lupeol  (ISO)
Lupiwighteone  (EXP)
luteolin  (EXP,ISO)
luteolin 7-O-beta-D-glucoside  (EXP)
LY 117018  (EXP)
LY294002  (EXP,ISO)
lycopene  (EXP)
magnesium atom  (ISO)
Magnolol  (ISO)
malonaldehyde  (EXP)
malvidin  (ISO)
mancozeb  (ISO)
maneb  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
mangiferin  (EXP,ISO)
manumycin A  (ISO)
masoprocol  (EXP)
Mecamylamine  (EXP)
Medermycin  (EXP)
MeIQ  (EXP)
MeIQx  (EXP)
melatonin  (EXP,ISO)
melittin  (EXP)
meloxicam  (EXP)
menaquinone  (ISO)
mercury dichloride  (ISO)
metformin  (EXP,ISO)
methamphetamine  (EXP,ISO)
Methanandamide  (EXP,ISO)
methapyrilene  (EXP)
methimazole  (EXP,ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methyl caffeate  (EXP)
methyl pyruvate  (ISO)
methylarsonic acid  (EXP)
methylglyoxal  (EXP)
methyllycaconitine  (EXP)
methylmercury chloride  (ISO)
methylseleninic acid  (EXP)
metoprolol  (ISO)
mevalonic acid  (EXP,ISO)
mevinphos  (ISO)
miconazole  (EXP)
microcystin-LR  (EXP,ISO)
mifepristone  (ISO)
mirabegron  (ISO)
mirtazapine  (ISO)
mitomycin C  (EXP)
MK-2206  (EXP,ISO)
ML-7  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
Monobutylphthalate  (ISO)
monocrotaline  (ISO)
monodansylcadaverine  (EXP)
monosodium L-glutamate  (ISO)
morin  (EXP,ISO)
morphine  (EXP,ISO)
morpholines  (EXP)
morusin  (EXP)
Mumbaistatin  (ISO)
mycophenolic acid  (EXP)
myo-inositol hexakisphosphate  (EXP)
myrtenal  (ISO)
Myrtucommulone A  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-[3,5-bis(trifluoromethyl)phenyl]-5-chloro-2-hydroxybenzamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-acetylsphingosine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-D-aspartic acid  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-phosphocreatine  (EXP)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
N-Vinyl-2-pyrrolidone  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
Naftopidil  (EXP)
naloxone  (ISO)
naphthalene  (ISO)
naringin  (ISO)
Neferine  (EXP,ISO)
neoastilbin  (EXP)
nickel atom  (EXP,ISO)
nickel dichloride  (EXP,ISO)
nickel subsulfide  (ISO)
nickel sulfate  (ISO)
niclosamide  (EXP)
nicotinamide  (ISO)
nicotine  (EXP,ISO)
nicotinic acid  (ISO)
nifedipine  (EXP)
nilutamide  (ISO)
Nitidine  (EXP)
nitric oxide  (ISO)
nitroprusside  (EXP,ISO)
nobiletin  (EXP,ISO)
Nonylphenol  (EXP,ISO)
Nookatone  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
nordihydroguaiaretic acid  (ISO)
notoginsenoside R1  (ISO)
novobiocin  (EXP)
NSC 23766  (EXP)
nystatin  (EXP)
o-anisidine  (EXP)
o-cresol  (ISO)
Obacunone  (EXP)
obeticholic acid  (EXP,ISO)
ochratoxin A  (EXP,ISO)
Octicizer  (EXP)
okadaic acid  (EXP,ISO)
olanzapine  (EXP,ISO)
olaparib  (EXP)
oleanolic acid  (EXP,ISO)
oleic acid  (EXP,ISO)
oleuropein  (ISO)
oligopeptide  (EXP)
olmesartan  (ISO)
Olprinone hydrochloride  (ISO)
omacetaxine mepesuccinate  (EXP)
omipalisib  (EXP)
Ophiopogonin D  (EXP)
organoselenium compound  (EXP,ISO)
orlistat  (EXP)
orotic acid  (EXP)
osimertinib  (EXP)
osthole  (EXP)
OSU-03012  (EXP)
oxaliplatin  (EXP)
oxidopamine  (ISO)
ozone  (EXP,ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
Paeonol  (ISO)
palbociclib  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
Parthenin  (EXP)
patulin  (EXP)
paxilline  (EXP)
PD 0325901  (EXP)
PD 168393  (ISO)
pentetrazol  (ISO)
pentobarbital  (ISO)
pepstatin A  (EXP)
perfluorodecanoic acid  (EXP)
perfluoroheptanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perfluoroundecanoic acid  (ISO)
perifosine  (EXP,ISO)
permethrin  (ISO)
peroxynitrous acid  (ISO)
PHA-665752  (EXP)
phenanthrene  (ISO)
phenethyl caffeate  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
phenol red  (EXP)
phentermine  (ISO)
phenylephrine  (ISO)
PhIP  (EXP)
phloretin  (EXP,ISO)
phloroglucinol  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
phosphatidic acid  (ISO)
phosphonoformic acid  (EXP)
phosphoramidon  (EXP)
phylloquinone  (ISO)
phytoestrogen  (ISO)
piclamilast  (ISO)
picoxystrobin  (EXP)
picropodophyllotoxin  (EXP)
pifithrin-?  (EXP)
piperine  (ISO)
pipoxolan  (ISO)
pirinixic acid  (ISO)
Plantamajoside  (EXP,ISO)
platycodin D  (EXP,ISO)
plerixafor  (EXP,ISO)
plitidepsin  (EXP)
plumbagin  (EXP,ISO)
Polygodial  (ISO)
ponatinib  (EXP)
potassium bromate  (ISO)
potassium cyanide  (ISO)
potassium dichromate  (EXP,ISO)
potassium iodide  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prilocaine  (EXP)
procaine  (EXP)
procyanidin B1  (EXP)
procyanidin B2  (EXP)
progesterone  (EXP,ISO)
promegestone  (ISO)
propazine  (EXP)
propiconazole  (ISO)
propofol  (EXP,ISO)
propranolol  (EXP)
prostaglandin E2  (EXP,ISO)
pterostilbene  (EXP)
puerarin  (EXP)
PX-866  (EXP,ISO)
pyocyanine  (EXP)
pyrethrins  (EXP)
pyrithione  (ISO)
pyrrolidine dithiocarbamate  (EXP)
pyrvinium  (EXP,ISO)
quartz  (EXP)
quercetagetin  (ISO)
quercetin  (EXP,ISO)
quercetin 4'-O-beta-D-glucopyranoside  (EXP)
quizartinib  (EXP)
rac-1-monopalmitoylglycerol  (EXP)
raffinose  (ISO)
raloxifene  (EXP,ISO)
razoxane  (ISO)
reparixin  (EXP)
reserpine  (ISO)
resorcinol  (EXP,ISO)
resveratrol  (EXP,ISO)
ribavirin  (EXP)
riboflavin  (ISO)
rimonabant  (EXP,ISO)
ritonavir  (ISO)
rivastigmine  (ISO)
roflumilast  (ISO)
rolipram  (ISO)
romidepsin  (EXP)
rosuvastatin calcium  (ISO)
rotenone  (EXP,ISO)
rottlerin  (EXP,ISO)
rubimaillin  (EXP)
Rutamarin  (ISO)
ruthenium atom  (EXP)
ruthenium red  (ISO)
rutin  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
Salidroside  (ISO)
salubrinal  (ISO)
salvianolic acid B  (ISO)
sarpogrelate  (ISO)
SB 203580  (EXP)
SB 431542  (EXP,ISO)
sclareol  (EXP,ISO)
scoparone  (ISO)
selenium atom  (EXP,ISO)
serotonin  (ISO)
serpentine asbestos  (EXP)
sertraline  (ISO)
sevoflurane  (ISO)
Shikonin  (EXP)
sildenafil citrate  (ISO)
silibinin  (ISO)
silicon dioxide  (EXP,ISO)
simazine  (EXP,ISO)
simvastatin  (EXP,ISO)
Sinomenine  (EXP)
sirolimus  (EXP,ISO)
sirtinol  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium dichromate  (EXP,ISO)
sodium dodecyl sulfate  (ISO)
sodium fluoride  (EXP,ISO)
sodium nitrite  (ISO)
solasodine  (EXP)
sorafenib  (EXP)
sphingosine 1-phosphate  (EXP,ISO)
squalene  (ISO)
SR 144528  (EXP)
stattic  (EXP)
staurosporine  (EXP,ISO)
stilbenoid  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP,ISO)
sulindac  (EXP,ISO)
sulindac sulfone  (ISO)
swainsonine  (ISO)
syringic acid  (EXP)
T-2 toxin  (ISO)
tadalafil  (ISO)
taiwanin C  (ISO)
tamarixetin  (ISO)
tamoxifen  (EXP,ISO)
tanespimycin  (EXP,ISO)
Tanshinone I  (ISO)
taraxasterol  (EXP)
taurine  (EXP,ISO)
taurocholic acid  (ISO)
taurolithocholic acid  (ISO)
tauroursodeoxycholic acid  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP,ISO)
Temsirolimus  (EXP,ISO)
tephrosin  (EXP)
terbutylazine  (EXP)
Terfenadine  (EXP)
teriflunomide  (EXP)
terpinolene  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
testosterone enanthate  (EXP,ISO)
Tetrachlorobisphenol A  (EXP,ISO)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
tetrathiomolybdate(2-)  (EXP)
thalidomide  (EXP)
thapsigargin  (EXP,ISO)
Theaflavin 3,3'-digallate  (EXP,ISO)
theobromine  (ISO)
thiamine(1+) chloride  (ISO)
thifluzamide  (EXP)
thimerosal  (ISO)
thioacetamide  (ISO)
Thiorphan  (EXP)
thymoquinone  (EXP,ISO)
thyroxine  (ISO)
tipifarnib  (EXP)
titanium dioxide  (EXP,ISO)
tofacitinib  (ISO)
toluene 2,4-diisocyanate  (ISO)
topiramate  (ISO)
trametinib  (EXP)
trans-anethole  (EXP)
triadimefon  (ISO)
triamcinolone  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (EXP,ISO)
trichostatin A  (EXP)
triciribine  (EXP)
triclosan  (ISO)
trifluoperazine  (ISO)
triphenylstannane  (EXP,ISO)
Triptolide  (ISO)
triptonide  (EXP)
tris(2-chloroethyl) phosphate  (EXP)
troglitazone  (EXP)
trovafloxacin  (EXP)
Tryptanthrine  (EXP)
tunicamycin  (EXP,ISO)
Tylophorine  (EXP)
tyrphostin AG 1478  (EXP,ISO)
U-73122  (EXP)
ursodeoxycholic acid  (EXP)
ursolic acid  (EXP)
Ursonic acid  (ISO)
usnic acid  (EXP)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vanadium atom  (ISO)
vanadium(0)  (ISO)
vandetanib  (EXP)
vanillic acid  (EXP)
veliparib  (EXP)
vemurafenib  (EXP)
venlafaxine hydrochloride  (ISO)
verapamil  (ISO)
vildagliptin  (ISO)
vinclozolin  (EXP)
vincristine  (EXP,ISO)
vitamin E  (EXP,ISO)
vorinostat  (EXP)
VX nerve agent  (ISO)
warfarin  (ISO)
water  (ISO)
WIN 55212-2  (EXP,ISO)
withaferin A  (ISO)
wogonin  (EXP,ISO)
wortmannin  (EXP,ISO)
xanthohumol  (EXP)
xanthosine  (ISO)
Y-27632  (EXP)
zalcitabine  (ISO)
zearalenone  (EXP,ISO)
zerumbone  (ISO)
zidovudine  (ISO)
zinc atom  (EXP,ISO)
zinc dichloride  (ISO)
zinc oxide  (EXP,ISO)
zinc protoporphyrin  (ISO)
zinc sulfate  (EXP,ISO)
zinc(0)  (EXP,ISO)
zingerone  (EXP)
ziram  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation-induced cell death of T cells  (IMP)
anoikis  (NAS)
apoptotic mitochondrial changes  (IEA,ISO)
apoptotic process  (IEA)
behavioral response to pain  (IEA)
canonical NF-kappaB signal transduction  (IMP)
cell differentiation  (TAS)
cell migration involved in sprouting angiogenesis  (IMP)
cell population proliferation  (TAS)
cell projection organization  (ISO)
cellular response to cadmium ion  (IMP)
cellular response to decreased oxygen levels  (IEA,ISO)
cellular response to epidermal growth factor stimulus  (IDA,IEA)
cellular response to granulocyte macrophage colony-stimulating factor stimulus  (IEA,ISO)
cellular response to growth factor stimulus  (IEA,ISO)
cellular response to hypoxia  (ISO)
cellular response to insulin stimulus  (IDA,IEA,IMP,ISO,ISS)
cellular response to mechanical stimulus  (ISO)
cellular response to nerve growth factor stimulus  (IMP,ISO)
cellular response to organic cyclic compound  (ISO)
cellular response to oxidised low-density lipoprotein particle stimulus  (IMP)
cellular response to peptide  (IEA,ISO)
cellular response to prostaglandin E stimulus  (IEA,ISO)
cellular response to reactive oxygen species  (IMP)
cellular response to tumor necrosis factor  (IEA,ISO)
cellular response to vascular endothelial growth factor stimulus  (IEA,ISO)
cytokine-mediated signaling pathway  (TAS)
DNA damage response  (ISO)
epidermal growth factor receptor signaling pathway  (IDA)
establishment of protein localization to mitochondrion  (IMP)
excitatory postsynaptic potential  (NAS)
execution phase of apoptosis  (IEA,ISO)
fibroblast migration  (NAS)
G protein-coupled receptor signaling pathway  (TAS)
gene expression  (IEA,ISO)
germ cell development  (IEA,ISO)
glucose homeostasis  (IEA,ISO)
glucose metabolic process  (IEA,ISO)
glycogen biosynthetic process  (IEA)
glycogen cell differentiation involved in embryonic placenta development  (IEA,ISO)
glycogen metabolic process  (IEA,ISO)
inflammatory response  (IEA,ISO)
insulin receptor signaling pathway  (IEA,IMP,ISS)
insulin-like growth factor receptor signaling pathway  (IEA,IMP)
interleukin-18-mediated signaling pathway  (IDA)
intracellular signal transduction  (IBA,IDA)
labyrinthine layer blood vessel development  (IEA,ISO)
lipopolysaccharide-mediated signaling pathway  (IEA,ISO)
maintenance of protein location in mitochondrion  (IMP)
mammalian oogenesis stage  (IEA,ISO)
mammary gland epithelial cell differentiation  (TAS)
maternal placenta development  (IEA,ISO)
negative regulation of apoptotic process  (IDA,IEA)
negative regulation of autophagy  (IMP)
negative regulation of calcium import into the mitochondrion  (ISO)
negative regulation of cell size  (ISO)
negative regulation of cGAS/STING signaling pathway  (IDA)
negative regulation of cilium assembly  (IDA)
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  (TAS)
negative regulation of fatty acid beta-oxidation  (IMP)
negative regulation of gene expression  (IEA)
negative regulation of intrinsic apoptotic signaling pathway  (IEA)
negative regulation of JNK cascade  (ISO)
negative regulation of leukocyte cell-cell adhesion  (IMP)
negative regulation of long-chain fatty acid import across plasma membrane  (IMP)
negative regulation of lymphocyte migration  (IMP)
negative regulation of macroautophagy  (NAS)
negative regulation of Notch signaling pathway  (TAS)
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (NAS)
negative regulation of protein localization to lysosome  (IDA)
negative regulation of protein ubiquitination  (IMP)
negative regulation of proteolysis  (IMP)
negative regulation of release of cytochrome c from mitochondria  (IEA,ISS)
negative regulation of superoxide anion generation  (ISO)
nervous system development  (IEA)
nitric oxide biosynthetic process  (TAS)
non-canonical NF-kappaB signal transduction  (IMP)
organic substance transport  (IEA)
osteoblast differentiation  (IEA,ISO)
peripheral nervous system myelin maintenance  (IEA,ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA,IEA,IMP,ISO,TAS)
positive regulation of apoptotic process  (ISO)
positive regulation of blood vessel endothelial cell migration  (IDA)
positive regulation of cell growth  (IDA,ISO)
positive regulation of DNA-templated transcription  (IMP)
positive regulation of endothelial cell migration  (IMP)
positive regulation of endothelial cell proliferation  (IMP)
positive regulation of fat cell differentiation  (IMP)
positive regulation of fibroblast migration  (IEA,ISO)
positive regulation of G1/S transition of mitotic cell cycle  (IMP)
positive regulation of gene expression  (IEA,IMP,ISS)
positive regulation of glucose import  (IMP)
positive regulation of glucose metabolic process  (IMP)
positive regulation of glycogen biosynthetic process  (IMP,NAS)
positive regulation of I-kappaB phosphorylation  (IMP)
positive regulation of lipid biosynthetic process  (IDA,IMP)
positive regulation of mitochondrial membrane potential  (ISO)
positive regulation of nitric oxide biosynthetic process  (IMP)
positive regulation of organ growth  (IEA,ISO)
positive regulation of peptidyl-serine phosphorylation  (IDA)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IDA,IEA,ISO)
positive regulation of protein localization to cell surface  (IEA)
positive regulation of protein localization to endoplasmic reticulum  (IDA)
positive regulation of protein localization to nucleus  (IMP)
positive regulation of protein localization to plasma membrane  (IMP)
positive regulation of protein metabolic process  (ISS)
positive regulation of protein phosphorylation  (IDA)
positive regulation of smooth muscle cell proliferation  (IDA)
positive regulation of sodium ion transport  (IEA,ISO)
positive regulation of TORC1 signaling  (IDA)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
positive regulation of vasoconstriction  (ISO)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IEA,ISO)
protein catabolic process  (IEA,ISO)
protein import into nucleus  (IMP)
protein phosphorylation  (ISO)
protein ubiquitination  (IEA,ISO)
regulation of aerobic respiration  (ISO)
regulation of apoptotic process  (IEA,ISS)
regulation of cell migration  (IMP,ISO,TAS)
regulation of glycogen biosynthetic process  (IMP)
regulation of mRNA stability  (TAS)
regulation of myelination  (IEA,ISO)
regulation of neuron projection development  (IEA,ISO,ISS)
regulation of postsynapse organization  (IEA)
regulation of protein localization  (IEA,ISO)
regulation of signal transduction by p53 class mediator  (TAS)
regulation of translation  (IEA)
regulation of tRNA methylation  (IDA)
regulation of type B pancreatic cell development  (TAS)
response to fluid shear stress  (IMP)
response to food  (IEA,ISO)
response to growth factor  (IDA)
response to growth hormone  (ISS)
response to heat  (IEA,TAS)
response to hormone  (IEA)
response to insulin-like growth factor stimulus  (ISS)
response to ischemia  (ISO)
response to organic substance  (IEA,ISO)
response to oxidative stress  (ISS)
response to UV-A  (IDA)
signal transduction  (TAS)
sphingosine-1-phosphate receptor signaling pathway  (IMP)
spinal cord development  (ISO)
striated muscle cell differentiation  (IEA,ISO)
T cell costimulation  (TAS)
TOR signaling  (NAS)
translation  (ISO)

Cellular Component
cell cortex  (NAS)
cell-cell junction  (IEA)
ciliary basal body  (IEA)
cytoplasm  (IDA,IEA,ISS,TAS)
cytosol  (IDA,IEA,TAS)
glutamatergic synapse  (IEA,ISO)
lamellipodium  (NAS)
membrane  (IDA,IEA)
microtubule cytoskeleton  (IDA)
mitochondrion  (IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,TAS)
plasma membrane  (IDA,IEA,TAS)
postsynapse  (IEA)
protein-containing complex  (IDA,IEA)
spindle  (IEA)
vesicle  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
acute myeloid leukemia pathway  (IEA)
adenosine signaling pathway  (EXP)
altered phosphatidylinositol 3-kinase-Akt signaling pathway  (TAS)
apoptotic cell death pathway  (IEA)
B cell receptor signaling pathway  (IEA)
ceramide signaling pathway  (EXP,IEA)
Chagas disease pathway  (IEA)
chronic myeloid leukemia pathway   (IEA)
colorectal cancer pathway  (IEA)
E-cadherin signaling pathway  (EXP)
eicosanoid signaling pathway   (EXP)
endometrial cancer pathway  (IEA)
endothelin signaling pathway   (EXP)
epidermal growth factor/neuregulin signaling pathway   (IEA)
FasL mediated signaling pathway  (EXP)
Fc epsilon receptor mediated signaling pathway  (EXP)
fibroblast growth factor signaling pathway  (EXP)
forkhead class A signaling pathway  (EXP)
glioma pathway   (IEA)
Hedgehog signaling pathway  (EXP)
hepatitis C pathway   (IEA)
hypoxia inducible factor pathway   (EXP)
insulin responsive facilitative sugar transporter mediated glucose transport pathway   (EXP,ISO)
insulin signaling pathway  (EXP,IEA)
insulin-like growth factor signaling pathway  (EXP)
interleukin-4 signaling pathway   (EXP)
interleukin-6 signaling pathway   (EXP)
Jak-Stat signaling pathway  (IEA)
measles pathway  (IEA)
melanoma pathway   (IEA)
mitogen activated protein kinase signaling pathway   (IEA)
mTOR signaling pathway  (EXP,IEA)
neurotrophic factor signaling pathway   (IEA)
non-small cell lung carcinoma pathway   (IEA,TAS)
p53 signaling pathway   (EXP)
pancreatic cancer pathway   (IEA)
phosphatidylinositol 3-kinase-Akt signaling pathway   (EXP,IEP,IMP,ISO,TAS)
prostate cancer pathway   (IEA)
Reelin signaling pathway   (EXP)
renal cell carcinoma pathway  (IEA)
small cell lung carcinoma pathway  (IEA)
sphingosine 1-phosphate signaling pathway  (EXP)
T cell receptor signaling pathway   (IEA)
Toll-like receptor signaling pathway  (IEA)
toxoplasmosis pathway  (IEA)
tuberculosis pathway  (IEA)
type II interferon signaling pathway   (EXP)
vascular endothelial growth factor signaling pathway  (EXP,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal central motor function  (IAGP)
Abnormal central sensory function  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal kinetic perimetry test  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormal mediastinum morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal pancreas morphology  (IAGP)
Abnormal penis morphology  (IAGP)
Abnormal subcutaneous fat tissue distribution  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of the neck  (IAGP)
Abnormality of the sense of smell  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of the wrist  (IAGP)
Abnormality on pulmonary function testing  (IAGP)
Adenoma sebaceum  (IAGP)
Adult onset  (IAGP)
Amenorrhea  (IAGP)
Angioid streaks of the fundus  (IAGP)
Anteverted nares  (IAGP)
Arterial thrombosis  (IAGP)
Arteriovenous malformation  (IAGP)
Asymmetric growth  (IAGP)
Asymmetry of the thorax  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Back pain  (IAGP)
Bitemporal hemianopia  (IAGP)
Blindness  (IAGP)
Bone cyst  (IAGP)
Brachydactyly  (IAGP)
Bradykinesia  (IAGP)
Brain stem compression  (IAGP)
Breast carcinoma  (IAGP)
Bronchogenic cyst  (IAGP)
Buphthalmos  (IAGP)
Cachexia  (IAGP)
Calvarial hyperostosis  (IAGP)
Capillary hemangioma  (IAGP)
Capillary malformation  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cavernous hemangioma  (IAGP)
Cellular immunodeficiency  (IAGP)
Central heterochromia  (IAGP)
Cerebral hemorrhage  (IAGP)
Cerebriform connective tissue nevus  (IAGP)
Chorioretinal coloboma  (IAGP)
Chromosomal breakage induced by ionizing radiation  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cognitive impairment  (IAGP)
Colon cancer  (IAGP)
Colonic diverticula  (IAGP)
Colorectal polyposis  (IAGP)
Conjunctival hamartoma  (IAGP)
Cranial hyperostosis  (IAGP)
Cranial nerve paralysis  (IAGP)
Craniosynostosis  (IAGP)
Cutaneous melanoma  (IAGP)
Decreased circulating ACTH concentration  (IAGP)
Decreased circulating cortisol level  (IAGP)
Decreased circulating follicle stimulating hormone concentration  (IAGP)
Decreased circulating luteinizing hormone level  (IAGP)
Decreased muscle mass  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Deep venous thrombosis  (IAGP)
Depigmentation/hyperpigmentation of skin  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes insipidus  (IAGP)
Difficulty walking  (IAGP)
Disproportionate tall stature  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysgerminoma  (IAGP)
Ear pain  (IAGP)
Elevated prostate-specific antigen level  (IAGP)
Emotional lability  (IAGP)
Endometrial carcinoma  (IAGP)
Enlarged kidney  (IAGP)
Enlarged pituitary gland  (IAGP)
Enlarged polycystic ovaries  (IAGP)
Epidermal acanthosis  (IAGP)
Epidermal nevus  (IAGP)
Excessive daytime somnolence  (IAGP)
Exostoses  (IAGP)
Exostosis of the external auditory canal  (IAGP)
Facial asymmetry  (IAGP)
Facial hyperostosis  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Fibroadenoma of the breast  (IAGP)
Fibroma  (IAGP)
Finger syndactyly  (IAGP)
Focal T2 hypointense thalamic lesion  (IAGP)
Focal-onset seizure  (IAGP)
Follicular thyroid carcinoma  (IAGP)
Functional motor deficit  (IAGP)
Furrowed tongue  (IAGP)
Gastric adenocarcinoma  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hyperkeratosis  (IAGP)
Generalized hyperpigmentation  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Goiter  (IAGP)
Gray matter heterotopia  (IAGP)
Gynecomastia  (IAGP)
Hallux valgus  (IAGP)
Hamartoma  (IAGP)
Hamartomatous polyposis  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hemangioma  (IAGP)
Hemifacial spasm  (IAGP)
Hemihypertrophy  (IAGP)
Hemiparesis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hydrocele testis  (IAGP)
Hydrocephalus  (IAGP)
Hyperkeratosis  (IAGP)
Hyperostosis  (IAGP)
Hypertelorism  (IAGP)
Hyperthyroidism  (IAGP)
Hypertrophy of skin of soles  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypothalamic hypothyroidism  (IAGP)
Hypothyroidism  (IAGP)
Impotence  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Increased intracranial pressure  (IAGP)
Increased sensitivity to ionizing radiation  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intention tremor  (IAGP)
Intracranial meningioma  (IAGP)
Irregular hyperpigmentation  (IAGP)
Joint stiffness  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Lewy bodies  (IAGP)
Limbal dermoid  (IAGP)
Lipodystrophy  (IAGP)
Lipoma  (IAGP)
Long face  (IAGP)
Long penis  (IAGP)
Low-set ears  (IAGP)
Lower limb asymmetry  (IAGP)
Lower limb muscle weakness  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphangioma  (IAGP)
Lymphedema  (IAGP)
Macrocephaly  (IAGP)
Macrodactyly  (IAGP)
Macroglossia  (IAGP)
Macroorchidism  (IAGP)
Macrotia  (IAGP)
Macule  (IAGP)
Mandibular hyperostosis  (IAGP)
Melanocytic nevus  (IAGP)
Melanoma  (IAGP)
Memory impairment  (IAGP)
Meningioma  (IAGP)
Metatarsus valgus  (IAGP)
Micrognathia  (IAGP)
Mucosal telangiectasiae  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Multiple lipomas  (IAGP)
Myofibrillar myopathy  (IAGP)
Myopia  (IAGP)
Narrow internal auditory canal  (IAGP)
Narrow mouth  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the anterior pituitary  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the central nervous system  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the posterior pituitary  (IAGP)
Neoplasm of the skin  (IAGP)
Neoplasm of the stomach  (IAGP)
Neoplasm of the thymus  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Neoplasm of the tongue  (IAGP)
Neurodegeneration  (IAGP)
Neurofibroma  (IAGP)
Nevus  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Obesity  (IAGP)
Oculomotor nerve palsy  (IAGP)
Open mouth  (IAGP)
Ophthalmoplegia  (IAGP)
Ovarian cyst  (IAGP)
Ovarian neoplasm  (IAGP)
Ovarian papillary adenocarcinoma  (IAGP)
Overgrowth  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Papilledema  (IAGP)
Papilloma  (IAGP)
Papule  (IAGP)
Parkinsonism  (IAGP)
Pectus excavatum  (IAGP)
Pituitary hypothyroidism  (IAGP)
Progressive  (IAGP)
Progressive macrocephaly  (IAGP)
Progressive pulmonary function impairment  (IAGP)
Proptosis  (IAGP)
Prostate cancer  (IAGP)
Prostate neoplasm  (IAGP)
Ptosis  (IAGP)
Pulmonary bulla  (IAGP)
Pulmonary cyst  (IAGP)
Pulmonary embolism  (IAGP)
Recurrent infections  (IAGP)
Reduced circulating prolactin concentration  (IAGP)
Renal cell carcinoma  (IAGP)
Renal cyst  (IAGP)
Retinal hamartoma  (IAGP)
Retinal nonattachment  (IAGP)
Rib exostoses  (IAGP)
Round face  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Secondary growth hormone deficiency  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Sirenomelia  (IAGP)
Skeletal dysplasia  (IAGP)
Skin tags  (IAGP)
Slow decrease in visual acuity  (IAGP)
Small cell lung carcinoma  (IAGP)
Spinal canal stenosis  (IAGP)
Spinal cord compression  (IAGP)
Spinal meningioma  (IAGP)
Splenomegaly  (IAGP)
Sporadic  (IAGP)
Squamous cell carcinoma  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Strabismus  (IAGP)
Subcutaneous lipoma  (IAGP)
Subcutaneous nodule  (IAGP)
Sudden cardiac death  (IAGP)
Syncope  (IAGP)
Testicular neoplasm  (IAGP)
Thick nasal alae  (IAGP)
Thickened skin  (IAGP)
Thin bony cortex  (IAGP)
Thrombophlebitis  (IAGP)
Thymus hyperplasia  (IAGP)
Thyroid adenoma  (IAGP)
Thyroiditis  (IAGP)
Tinnitus  (IAGP)
Tooth agenesis  (IAGP)
Transient global amnesia  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Trigeminal neuralgia  (IAGP)
Typified by somatic mosaicism  (IAGP)
Upper limb asymmetry  (IAGP)
Upper limb muscle weakness  (IAGP)
Urinary incontinence  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Varicocele  (IAGP)
Vascular skin abnormality  (IAGP)
Venous malformation  (IAGP)
Verrucous epidermal nevus  (IAGP)
Visceral angiomatosis  (IAGP)
Visual acuity test abnormality  (IAGP)
Weak extraocular muscles  (IAGP)
References

References - curated
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10. Akt induces enhanced myocardial contractility and cell size in vivo in transgenic mice. Condorelli G, etal., Proc Natl Acad Sci U S A 2002 Sep 17;99(19):12333-8.
11. Dissociation of Akt/PKB and ribosomal S6 kinase signaling markers in a transgenic mouse model of Alzheimer's disease. Damjanac M, etal., Neurobiol Dis. 2008 Feb;29(2):354-67. Epub 2007 Oct 11.
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13. Gene and protein expression associated with protein synthesis and breakdown in paraplegic skeletal muscle. Drummond MJ, etal., Muscle Nerve. 2008 Apr;37(4):505-13.
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18. Loss of Akt1 leads to severe atherosclerosis and occlusive coronary artery disease. Fernandez-Hernando C, etal., Cell Metab. 2007 Dec;6(6):446-57.
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21. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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34. Genetic polymorphisms in inflammation pathway genes and prostate cancer risk. Kwon EM, etal., Cancer Epidemiol Biomarkers Prev. 2011 May;20(5):923-33. Epub 2011 Mar 23.
35. Ontology searching and browsing at the Rat Genome Database. Laulederkind SJ, etal., Database (Oxford). 2012 Mar 20;2012:bas016. Print 2012.
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PMID:27686608   PMID:27695098   PMID:27696687   PMID:27699664   PMID:27699665   PMID:27701018   PMID:27702651   PMID:27707884   PMID:27713121   PMID:27717743   PMID:27742746   PMID:27746366  
PMID:27748879   PMID:27751915   PMID:27753212   PMID:27762303   PMID:27768959   PMID:27769899   PMID:27779207   PMID:27783537   PMID:27789284   PMID:27789731   PMID:27796683   PMID:27806323  
PMID:27809307   PMID:27822469   PMID:27829222   PMID:27863385   PMID:27869735   PMID:27875549   PMID:27876874   PMID:27878243   PMID:27878245   PMID:27879648   PMID:27884700   PMID:27893430  
PMID:27899255   PMID:27901111   PMID:27910734   PMID:27913571   PMID:27915346   PMID:27918554   PMID:27919028   PMID:27922686   PMID:27926990   PMID:27959444   PMID:27983922   PMID:27992958  
PMID:28025795   PMID:28025797   PMID:28026112   PMID:28032865   PMID:28034805   PMID:28035415   PMID:28064317   PMID:28069548   PMID:28075016   PMID:28075472   PMID:28078305   PMID:28081222  
PMID:28082415   PMID:28089901   PMID:28097440   PMID:28098872   PMID:28099937   PMID:28112375   PMID:28112582   PMID:28115166   PMID:28122716   PMID:28132399   PMID:28147324   PMID:28157137  
PMID:28165011   PMID:28165066   PMID:28165192   PMID:28178653   PMID:28178656   PMID:28188683   PMID:28188923   PMID:28190771   PMID:28199981   PMID:28202510   PMID:28205554   PMID:28209923  
PMID:28209968   PMID:28212545   PMID:28218907   PMID:28225038   PMID:28240051   PMID:28258248   PMID:28259870   PMID:28259918   PMID:28264193   PMID:28264587   PMID:28266802   PMID:28271235  
PMID:28279977   PMID:28286270   PMID:28287129   PMID:28291820   PMID:28300578   PMID:28301567   PMID:28302479   PMID:28316059   PMID:28319085   PMID:28319113   PMID:28320338   PMID:28320862  
PMID:28322462   PMID:28322991   PMID:28328831   PMID:28331616   PMID:28332226   PMID:28336670   PMID:28337869   PMID:28339062   PMID:28341552   PMID:28350098   PMID:28351297   PMID:28351325  
PMID:28355296   PMID:28356268   PMID:28358423   PMID:28363000   PMID:28363942   PMID:28373060   PMID:28376174   PMID:28383549   PMID:28386764   PMID:28398603   PMID:28416594   PMID:28418888  
PMID:28423499   PMID:28423550   PMID:28423620   PMID:28423632   PMID:28432343   PMID:28442011   PMID:28442344   PMID:28443643   PMID:28445151   PMID:28447761   PMID:28459375   PMID:28464252  
PMID:28465488   PMID:28472036   PMID:28482067   PMID:28482233   PMID:28483634   PMID:28488541   PMID:28489509   PMID:28492559   PMID:28495456   PMID:28498460   PMID:28499984   PMID:28503860  
PMID:28509866   PMID:28513300   PMID:28514442   PMID:28534957   PMID:28534966   PMID:28534983   PMID:28544747   PMID:28548645   PMID:28550454   PMID:28557977   PMID:28560349   PMID:28560385  
PMID:28580603   PMID:28586006   PMID:28586035   PMID:28594409   PMID:28601070   PMID:28601321   PMID:28602980   PMID:28604419   PMID:28614631   PMID:28627093   PMID:28627598   PMID:28628306  
PMID:28631564   PMID:28634229   PMID:28635399   PMID:28648644   PMID:28651161   PMID:28652618   PMID:28655554   PMID:28666999   PMID:28667123   PMID:28677816   PMID:28689659   PMID:28691365  
PMID:28696156   PMID:28698135   PMID:28699701   PMID:28701359   PMID:28705116   PMID:28708672   PMID:28713929   PMID:28715819   PMID:28716898   PMID:28731173   PMID:28743112   PMID:28759294  
PMID:28760343   PMID:28762556   PMID:28762597   PMID:28764807   PMID:28765579   PMID:28768870   PMID:28771224   PMID:28774796   PMID:28791373   PMID:28801734   PMID:28803837   PMID:28806945  
PMID:28820394   PMID:28826600   PMID:28849060   PMID:28852964   PMID:28867187   PMID:28870807   PMID:28871105   PMID:28919423   PMID:28923857   PMID:28924214   PMID:28931525   PMID:28931550  
PMID:28934469   PMID:28954236   PMID:28964785   PMID:28972042   PMID:28974422   PMID:28976590   PMID:29021135   PMID:29025710   PMID:29038421   PMID:29047106   PMID:29054988   PMID:29059166  
PMID:29066512   PMID:29079416   PMID:29086897   PMID:29093526   PMID:29098623   PMID:29103201   PMID:29103612   PMID:29104511   PMID:29114068   PMID:29139175   PMID:29156644   PMID:29169420  
PMID:29169802   PMID:29190819   PMID:29196809   PMID:29198699   PMID:29203244   PMID:29207012   PMID:29233656   PMID:29235817   PMID:29239720   PMID:29248580   PMID:29253569   PMID:29278885  
PMID:29286143   PMID:29293671   PMID:29298992   PMID:29311840   PMID:29321326   PMID:29326072   PMID:29328485   PMID:29335246   PMID:29339542   PMID:29343641   PMID:29344640   PMID:29355710  
PMID:29358114   PMID:29366808   PMID:29381777   PMID:29384225   PMID:29386088   PMID:29396723   PMID:29410498   PMID:29435871   PMID:29445134   PMID:29445189   PMID:29445190   PMID:29464284  
PMID:29484412   PMID:29488603   PMID:29488612   PMID:29506489   PMID:29508857   PMID:29523594   PMID:29530788   PMID:29540052   PMID:29551771   PMID:29555473   PMID:29567957   PMID:29588416  
PMID:29595187   PMID:29596836   PMID:29606701   PMID:29632185   PMID:29658179   PMID:29667769   PMID:29669822   PMID:29675019   PMID:29678744   PMID:29693147   PMID:29693152   PMID:29695636  
PMID:29702193   PMID:29703716   PMID:29713826   PMID:29714127   PMID:29729692   PMID:29738361   PMID:29739299   PMID:29748601   PMID:29749454   PMID:29755115   PMID:29762822   PMID:29808803  
PMID:29843123   PMID:29845300   PMID:29848705   PMID:29866190   PMID:29866590   PMID:29884225   PMID:29899118   PMID:29901196   PMID:29901205   PMID:29904919   PMID:29905853   PMID:29928875  
PMID:29931708   PMID:29944886   PMID:29947926   PMID:29950119   PMID:29956797   PMID:29957460   PMID:29961070   PMID:29967111   PMID:29970694   PMID:29978609   PMID:29980193   PMID:29987050  
PMID:29997244   PMID:30015941   PMID:30015981   PMID:30017965   PMID:30060952   PMID:30062828   PMID:30065942   PMID:30066935   PMID:30071535   PMID:30073840   PMID:30076720   PMID:30091314  
PMID:30106450   PMID:30111766   PMID:30117642   PMID:30119889   PMID:30132507   PMID:30132513   PMID:30135474   PMID:30143532   PMID:30144359   PMID:30176313   PMID:30180955   PMID:30180968  
PMID:30191752   PMID:30203720   PMID:30212483   PMID:30217308   PMID:30218719   PMID:30227836   PMID:30246429   PMID:30266404   PMID:30281919   PMID:30321450   PMID:30338790   PMID:30348524  
PMID:30359740   PMID:30376610   PMID:30382076   PMID:30389444   PMID:30399427   PMID:30413706   PMID:30426615   PMID:30431102   PMID:30445978   PMID:30461193   PMID:30483773   PMID:30488766  
PMID:30514904   PMID:30515391   PMID:30538328   PMID:30541897   PMID:30582216   PMID:30582951   PMID:30610809   PMID:30627910   PMID:30639242   PMID:30641218   PMID:30643008   PMID:30658672  
PMID:30660646   PMID:30664215   PMID:30666840   PMID:30688659   PMID:30690883   PMID:30692625   PMID:30692626   PMID:30700111   PMID:30707166   PMID:30717751   PMID:30720164   PMID:30734931  
PMID:30755508   PMID:30760089   PMID:30773595   PMID:30817089   PMID:30837283   PMID:30864829   PMID:30865562   PMID:30868840   PMID:30877085   PMID:30894683   PMID:30904401   PMID:30911957  
PMID:30915770   PMID:30920655   PMID:30930055   PMID:30941980   PMID:30945383   PMID:30947633   PMID:30967498   PMID:30984553   PMID:30987931   PMID:30988120   PMID:30992506   PMID:31001918  
PMID:31010589   PMID:31015491   PMID:31057087   PMID:31062130   PMID:31091179   PMID:31091453   PMID:31092013   PMID:31094929   PMID:31111534   PMID:31111552   PMID:31115502   PMID:31128026  
PMID:31128034   PMID:31130364   PMID:31138602   PMID:31139940   PMID:31147216   PMID:31171914   PMID:31178144   PMID:31204173   PMID:31210372   PMID:31210839   PMID:31229616   PMID:31233190  
PMID:31252679   PMID:31270027   PMID:31301290   PMID:31317026   PMID:31322550   PMID:31332347   PMID:31348981   PMID:31355268   PMID:31358653   PMID:31383785   PMID:31383790   PMID:31390487  
PMID:31397502   PMID:31411131   PMID:31421084   PMID:31431660   PMID:31467081   PMID:31495494   PMID:31502574   PMID:31515488   PMID:31527305   PMID:31527710   PMID:31534518   PMID:31542232  
PMID:31545464   PMID:31548394   PMID:31560953   PMID:31593688   PMID:31603257   PMID:31612389   PMID:31637423   PMID:31654273   PMID:31660083   PMID:31665911   PMID:31671832   PMID:31678930  
PMID:31680442   PMID:31698236   PMID:31702026   PMID:31740976   PMID:31744268   PMID:31746363   PMID:31781306   PMID:31789102   PMID:31792197   PMID:31804757   PMID:31810385   PMID:31810747  
PMID:31814034   PMID:31839745   PMID:31841454   PMID:31844113   PMID:31847370   PMID:31863623   PMID:31870551   PMID:31898360   PMID:31900915   PMID:31915252   PMID:31922212   PMID:31927624  
PMID:31980649   PMID:32016970   PMID:32023262   PMID:32051249   PMID:32052576   PMID:32052902   PMID:32067263   PMID:32070062   PMID:32072901   PMID:32075106   PMID:32078952   PMID:32088208  
PMID:32088212   PMID:32120136   PMID:32123010   PMID:32124954   PMID:32134755   PMID:32152504   PMID:32164484   PMID:32187107   PMID:32196585   PMID:32223728   PMID:32227107   PMID:32231148  
PMID:32235891   PMID:32236665   PMID:32239427   PMID:32275808   PMID:32275841   PMID:32296183   PMID:32319007   PMID:32322062   PMID:32327430   PMID:32337956   PMID:32338219   PMID:32350110  
PMID:32398646   PMID:32400082   PMID:32409581   PMID:32415497   PMID:32450252   PMID:32451180   PMID:32456793   PMID:32459973   PMID:32463592   PMID:32511815   PMID:32513696   PMID:32536252  
PMID:32538748   PMID:32558491   PMID:32560319   PMID:32583575   PMID:32587773   PMID:32590727   PMID:32597970   PMID:32602013   PMID:32627866   PMID:32638014   PMID:32649737   PMID:32678073  
PMID:32681842   PMID:32685545   PMID:32707033   PMID:32714082   PMID:32744308   PMID:32749680   PMID:32750756   PMID:32801337   PMID:32811869   PMID:32814053   PMID:32818018   PMID:32867711  
PMID:32868527   PMID:32876514   PMID:32877205   PMID:32879443   PMID:32898245   PMID:32900491   PMID:32905641   PMID:32907536   PMID:32909117   PMID:32919955   PMID:32937140   PMID:32941187  
PMID:32945500   PMID:32946066   PMID:32946618   PMID:32961022   PMID:32971114   PMID:33009488   PMID:33019495   PMID:33031100   PMID:33034831   PMID:33054853   PMID:33080996   PMID:33090398  
PMID:33107190   PMID:33113244   PMID:33147101   PMID:33150178   PMID:33152664   PMID:33155364   PMID:33202866   PMID:33203795   PMID:33217539   PMID:33236135   PMID:33236146   PMID:33236153  
PMID:33247671   PMID:33253205   PMID:33260159   PMID:33266502   PMID:33272176   PMID:33290747   PMID:33303690   PMID:33304472   PMID:33306668   PMID:33316386   PMID:33318536   PMID:33325628  
PMID:33368780   PMID:33377281   PMID:33390793   PMID:33399177   PMID:33404607   PMID:33408715   PMID:33419778   PMID:33430027   PMID:33448321   PMID:33452459   PMID:33459443   PMID:33478005  
PMID:33482199   PMID:33491326   PMID:33495818   PMID:33501684   PMID:33505021   PMID:33513620   PMID:33515347   PMID:33538798   PMID:33568640   PMID:33582946   PMID:33586682   PMID:33594058  
PMID:33602509   PMID:33624300   PMID:33631302   PMID:33637977   PMID:33660795   PMID:33664452   PMID:33668685   PMID:33670268   PMID:33671468   PMID:33675995   PMID:33686397   PMID:33706682  
PMID:33721832   PMID:33724660   PMID:33739781   PMID:33748278   PMID:33753495   PMID:33758188   PMID:33759248   PMID:33759321   PMID:33761321   PMID:33763472   PMID:33764366   PMID:33784016  
PMID:33785733   PMID:33786575   PMID:33793628   PMID:33794833   PMID:33821934   PMID:33839456   PMID:33894221   PMID:33941854   PMID:33954864   PMID:33961012   PMID:33961781   PMID:33969929  
PMID:33988691   PMID:33994864   PMID:34007784   PMID:34033176   PMID:34048366   PMID:34069970   PMID:34075774   PMID:34081908   PMID:34103528   PMID:34108622   PMID:34112805   PMID:34140465  
PMID:34153339   PMID:34161152   PMID:34171521   PMID:34214875   PMID:34233294   PMID:34236826   PMID:34240838   PMID:34248141   PMID:34250422   PMID:34257160   PMID:34278744   PMID:34319001  
PMID:34326682   PMID:34333223   PMID:34335983   PMID:34337864   PMID:34375304   PMID:34375627   PMID:34382740   PMID:34386944   PMID:34408201   PMID:34416437   PMID:34417976   PMID:34513728  
PMID:34575999   PMID:34580062   PMID:34591612   PMID:34603789   PMID:34605863   PMID:34634811   PMID:34638702   PMID:34638712   PMID:34670536   PMID:34681840   PMID:34688655   PMID:34709725  
PMID:34709960   PMID:34711817   PMID:34718347   PMID:34749529   PMID:34768807   PMID:34783234   PMID:34784707   PMID:34815385   PMID:34823219   PMID:34826189   PMID:34826698   PMID:34830011  
PMID:34831026   PMID:34834023   PMID:34857952   PMID:34861581   PMID:34870753   PMID:34938598   PMID:34941261   PMID:34943938   PMID:34948132   PMID:34948236   PMID:34965427   PMID:34967502  
PMID:34974760   PMID:34983926   PMID:34995578   PMID:35013159   PMID:35038807   PMID:35062349   PMID:35068331   PMID:35077510   PMID:35094193   PMID:35105354   PMID:35124166   PMID:35181478  
PMID:35191464   PMID:35208943   PMID:35256949   PMID:35271311   PMID:35317488   PMID:35439318   PMID:35487271   PMID:35509820   PMID:35562515   PMID:35622156   PMID:35679685   PMID:35694806  
PMID:35705314   PMID:35748872   PMID:35756492   PMID:35796636   PMID:35803934   PMID:35831314   PMID:35851744   PMID:35892586   PMID:35929078   PMID:35962953   PMID:35996134   PMID:36056002  
PMID:36077184   PMID:36077559   PMID:36112948   PMID:36139434   PMID:36142605   PMID:36195659   PMID:36215168   PMID:36217693   PMID:36229454   PMID:36241055   PMID:36252912   PMID:36322819  
PMID:36399797   PMID:36403850   PMID:36411371   PMID:36438913   PMID:36463188   PMID:36469488   PMID:36469496   PMID:36520054   PMID:36544080   PMID:36547768   PMID:36580886   PMID:36593255  
PMID:36602585   PMID:36640312   PMID:36658650   PMID:36670097   PMID:36675119   PMID:36694914   PMID:36698245   PMID:36701842   PMID:36719093   PMID:36725746   PMID:36736316   PMID:36768370  
PMID:36806887   PMID:36853430   PMID:36879181   PMID:36882608   PMID:36917356   PMID:36927233   PMID:36951936   PMID:36963524   PMID:36966254   PMID:36980305   PMID:37005876   PMID:37011414  
PMID:37029297   PMID:37039367   PMID:37047027   PMID:37087577   PMID:37105761   PMID:37120454   PMID:37127048   PMID:37132043   PMID:37140169   PMID:37162682   PMID:37175840   PMID:37187422  
PMID:37192383   PMID:37196148   PMID:37207939   PMID:37257791   PMID:37264873   PMID:37277581   PMID:37302368   PMID:37408388   PMID:37474008   PMID:37479901   PMID:37493735   PMID:37498306  
PMID:37531320   PMID:37543219   PMID:37578594   PMID:37593912   PMID:37632628   PMID:37634562   PMID:37642368   PMID:37652287   PMID:37658401   PMID:37700593   PMID:37728571   PMID:37827155  
PMID:37875355   PMID:37879895   PMID:37909722   PMID:37937607   PMID:37937915   PMID:37972389   PMID:37984409   PMID:38109551   PMID:38115179   PMID:38117222   PMID:38139359   PMID:38141889  
PMID:38172081   PMID:38172354   PMID:38185904   PMID:38191051   PMID:38197491   PMID:38216090   PMID:38241710   PMID:38251858   PMID:38284203   PMID:38290657   PMID:38325141   PMID:38363382  
PMID:38396845  


Genomics

Comparative Map Data
AKT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814104,769,349 - 104,795,748 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14104,769,349 - 104,795,751 (-)EnsemblGRCh38hg38GRCh38
GRCh3714105,235,686 - 105,262,085 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614104,306,731 - 104,333,125 (-)NCBINCBI36Build 36hg18NCBI36
Build 3414104,306,752 - 104,330,608NCBI
Celera1485,290,760 - 85,317,154 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1485,432,617 - 85,464,212 (-)NCBIHuRef
CHM1_114105,173,739 - 105,200,089 (-)NCBICHM1_1
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBIT2T-CHM13v2.0
Akt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912112,620,260 - 112,641,266 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12112,620,255 - 112,641,318 (-)EnsemblGRCm39 Ensembl
GRCm3812112,653,821 - 112,674,884 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12112,653,821 - 112,674,884 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712113,892,032 - 113,912,487 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612113,101,629 - 113,121,998 (-)NCBIMGSCv36mm8
Celera12113,867,449 - 113,888,183 (-)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1261.2NCBI
Akt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86137,534,810 - 137,555,131 (-)NCBIGRCr8
mRatBN7.26131,713,716 - 131,735,319 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6131,713,720 - 131,733,921 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6131,883,770 - 131,900,905 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06132,180,876 - 132,197,963 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06131,543,341 - 131,560,403 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06137,218,398 - 137,239,970 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6137,218,376 - 137,236,258 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06146,225,955 - 146,247,008 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46137,640,482 - 137,657,552 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16137,646,668 - 137,663,739 (-)NCBI
Celera6129,262,032 - 129,279,096 (-)NCBICelera
RH 3.4 Map6782.49RGD
Cytogenetic Map6q32NCBI
Akt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555383,208,710 - 3,229,904 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555383,208,711 - 3,224,386 (-)NCBIChiLan1.0ChiLan1.0
AKT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215105,950,803 - 105,978,465 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114105,167,305 - 105,194,960 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01485,417,229 - 85,444,722 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114105,211,645 - 105,236,756 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14105,208,128 - 105,236,756 (-)Ensemblpanpan1.1panPan2
AKT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1872,317,399 - 72,335,686 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl872,317,869 - 72,335,193 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha871,823,163 - 71,843,039 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0872,592,378 - 72,612,252 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl872,592,384 - 72,609,857 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1872,275,001 - 72,294,850 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0872,318,256 - 72,338,331 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0872,717,834 - 72,737,716 (-)NCBIUU_Cfam_GSD_1.0
Akt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086401,791,300 - 1,810,158 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936621620,074 - 639,093 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936621620,163 - 639,115 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AKT1
(Sus scrofa - pig)		 No map positions available.
AKT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12482,704,087 - 82,730,711 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2482,704,068 - 82,727,698 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605370,125,334 - 70,153,468 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Akt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624734509,368 - 525,295 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624734507,880 - 525,295 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AKT1
706 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001382430.1(AKT1):c.738C>T (p.Ser246=) single nucleotide variant Cowden syndrome 6 [RCV001087620]|Inborn genetic diseases [RCV002384234] Chr14:104773545 [GRCh38]
Chr14:105239882 [GRCh37]
Chr14:14q32.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001382430.1(AKT1):c.9C>T (p.Asp3=) single nucleotide variant Cowden syndrome 6 [RCV000547548]|Inborn genetic diseases [RCV002384235] Chr14:104792635 [GRCh38]
Chr14:105258972 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1242G>C (p.Gln414His) single nucleotide variant Cowden syndrome 6 [RCV000525815] Chr14:104772383 [GRCh38]
Chr14:105238720 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.684G>A (p.Glu228=) single nucleotide variant Cowden syndrome 6 [RCV001493990]|Inborn genetic diseases [RCV003298877] Chr14:104773930 [GRCh38]
Chr14:105240267 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.206G>A (p.Arg69Gln) single nucleotide variant Cowden syndrome 6 [RCV000543771] Chr14:104776740 [GRCh38]
Chr14:105243077 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.822C>T (p.Asp274=) single nucleotide variant Cowden syndrome 6 [RCV000551046] Chr14:104773461 [GRCh38]
Chr14:105239798 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.876C>T (p.Asp292=) single nucleotide variant Cowden syndrome 6 [RCV000527184]|Inborn genetic diseases [RCV002377159] Chr14:104773332 [GRCh38]
Chr14:105239669 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.174G>A (p.Ala58=) single nucleotide variant Cowden syndrome 6 [RCV000555260]|Inborn genetic diseases [RCV002404539] Chr14:104780089 [GRCh38]
Chr14:105246426 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.567+8C>T single nucleotide variant Cowden syndrome 6 [RCV000544720] Chr14:104775068 [GRCh38]
Chr14:105241405 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) single nucleotide variant Bone osteosarcoma [RCV000421696]|Breast adenocarcinoma [RCV000015017]|Breast neoplasm [RCV000430173]|Carcinoma of colon [RCV000015018]|Cowden syndrome 6 [RCV000795313]|Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation [RCV000431237]|Gastric adenocarcinoma [RCV000427484]|Hepatocellular carcinoma [RCV000444311]|Lung adenocarcinoma [RCV000431723]|Malignant melanoma of skin [RCV000426386]|Neoplasm of ovary [RCV000015019]|Neoplasm of the large intestine [RCV000429060]|Neoplasm of uterine cervix [RCV000438154]|Non-small cell lung carcinoma [RCV000436698]|Prostate adenocarcinoma [RCV000419412]|Prostate neoplasm [RCV000445271]|Proteus syndrome [RCV000031926]|Small cell lung carcinoma [RCV000421850]|Squamous cell carcinoma of the head and neck [RCV000439982]|Squamous cell lung carcinoma [RCV000440828]|Thyroid tumor [RCV000421009]|Transitional cell carcinoma of the bladder [RCV000443761]|Tumor of meninges [RCV000434120]|not provided [RCV001813745] Chr14:104780214 [GRCh38]
Chr14:105246551 [GRCh37]
Chr14:14q32.33		 pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters|other
NM_001382430.1(AKT1):c.73C>T (p.Arg25Cys) single nucleotide variant Cowden syndrome 6 [RCV000033177] Chr14:104780190 [GRCh38]
Chr14:105246527 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001382430.1(AKT1):c.1303A>C (p.Thr435Pro) single nucleotide variant Cowden syndrome 6 [RCV000033178] Chr14:104770805 [GRCh38]
Chr14:105237142 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 copy number loss See cases [RCV000051581] Chr14:103784758..106870558 [GRCh38]
Chr14:104251095..107278770 [GRCh37]
Chr14:103320848..106349815 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3 copy number gain See cases [RCV000052101] Chr14:104309234..104898546 [GRCh38]
Chr14:104775571..105364883 [GRCh37]
Chr14:103846616..104435928 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
NM_001382430.1(AKT1):c.1373T>C (p.Met458Thr) single nucleotide variant Cowden syndrome 6 [RCV000464381]|not specified [RCV000119958] Chr14:104770411 [GRCh38]
Chr14:105236748 [GRCh37]
Chr14:14q32.33		 uncertain significance|not provided
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) single nucleotide variant AKT1-related condition [RCV003965004]|Cowden syndrome 6 [RCV000231031]|Hereditary cancer [RCV003492516]|not provided [RCV002305447]|not specified [RCV000119959] Chr14:104780125 [GRCh38]
Chr14:105246462 [GRCh37]
Chr14:14q32.33		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001382430.1(AKT1):c.225C>G (p.Ile75Met) single nucleotide variant Cowden syndrome 6 [RCV001854593]|not specified [RCV000119960] Chr14:104776721 [GRCh38]
Chr14:105243058 [GRCh37]
Chr14:14q32.33		 uncertain significance|not provided
NM_001382430.1(AKT1):c.1097T>C (p.Ile366Thr) single nucleotide variant Cowden syndrome 6 [RCV001302477] Chr14:104772953 [GRCh38]
Chr14:105239290 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1351C>T (p.Pro451Ser) single nucleotide variant Cowden syndrome 6 [RCV001333360] Chr14:104770757 [GRCh38]
Chr14:105237094 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1 copy number loss See cases [RCV000135781] Chr14:104622881..106678844 [GRCh38]
Chr14:105017236..107134861 [GRCh37]
Chr14:104088281..106205906 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1 copy number loss See cases [RCV000142333] Chr14:104051258..106877229 [GRCh38]
Chr14:104517595..107285437 [GRCh37]
Chr14:103587348..106356482 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1 copy number loss See cases [RCV000142803] Chr14:103823600..106879298 [GRCh38]
Chr14:104289937..107287505 [GRCh37]
Chr14:103359690..106358550 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His) single nucleotide variant Cowden syndrome 6 [RCV000205643]|not provided [RCV003237770] Chr14:104770390 [GRCh38]
Chr14:105236727 [GRCh37]
Chr14:14q32.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_001382430.1(AKT1):c.958-7C>T single nucleotide variant AKT1-related condition [RCV003982951]|Cowden syndrome 6 [RCV000203797] Chr14:104773099 [GRCh38]
Chr14:105239436 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579) copy number loss not provided [RCV000767716] Chr14:103804791..105677579 [GRCh37]
Chr14:14q32.32-32.33		 likely pathogenic
chr14:104643721..105932775 complex variant complex Breast ductal adenocarcinoma [RCV000207189] Chr14:104643721..105932775 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) single nucleotide variant Cowden syndrome 6 [RCV000229592]|Inborn genetic diseases [RCV002379002]|not provided [RCV001727648]|not specified [RCV001579879] Chr14:104773030 [GRCh38]
Chr14:105239367 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001382430.1(AKT1):c.1233C>T (p.Ile411=) single nucleotide variant Cowden syndrome 6 [RCV000227810]|Inborn genetic diseases [RCV002365200]|not provided [RCV003884421] Chr14:104772392 [GRCh38]
Chr14:105238729 [GRCh37]
Chr14:14q32.33		 likely pathogenic|likely benign
NM_001382430.1(AKT1):c.1389C>T (p.Ser463=) single nucleotide variant Cowden syndrome 6 [RCV000228204] Chr14:104770395 [GRCh38]
Chr14:105236732 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1329G>A (p.Thr443=) single nucleotide variant Cowden syndrome 6 [RCV000230643]|Inborn genetic diseases [RCV002379003] Chr14:104770779 [GRCh38]
Chr14:105237116 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.315T>C (p.Thr105=) single nucleotide variant AKT1-related condition [RCV003907874]|Cowden syndrome 6 [RCV001447357]|Inborn genetic diseases [RCV002321875] Chr14:104775772 [GRCh38]
Chr14:105242109 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1227C>T (p.Ala409=) single nucleotide variant Cowden syndrome 6 [RCV000231388]|Inborn genetic diseases [RCV002365199] Chr14:104772398 [GRCh38]
Chr14:105238735 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1228G>A (p.Gly410Ser) single nucleotide variant Cowden syndrome 6 [RCV000232840] Chr14:104772397 [GRCh38]
Chr14:105238734 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.406G>A (p.Val136Met) single nucleotide variant Cowden syndrome 6 [RCV000231420]|not provided [RCV003409350] Chr14:104775681 [GRCh38]
Chr14:105242018 [GRCh37]
Chr14:14q32.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) single nucleotide variant Cowden syndrome 6 [RCV000233578]|Familial cancer of breast [RCV002500786]|Inborn genetic diseases [RCV002392704]|not provided [RCV001795366]|not specified [RCV001795367] Chr14:104773018 [GRCh38]
Chr14:105239355 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001382430.1(AKT1):c.958-6G>A single nucleotide variant Cowden syndrome 6 [RCV000232103] Chr14:104773098 [GRCh38]
Chr14:105239435 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1431C>T (p.Ser477=) single nucleotide variant Cowden syndrome 6 [RCV000233871]|Inborn genetic diseases [RCV002392705] Chr14:104770353 [GRCh38]
Chr14:105236690 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1380T>C (p.Cys460=) single nucleotide variant Cowden syndrome 6 [RCV000234633]|Inborn genetic diseases [RCV002379004] Chr14:104770404 [GRCh38]
Chr14:105236741 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.828+10C>T single nucleotide variant Cowden syndrome 6 [RCV000228128] Chr14:104773445 [GRCh38]
Chr14:105239782 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.432C>T (p.Arg144=) single nucleotide variant Cowden syndrome 6 [RCV000226398]|Inborn genetic diseases [RCV002327129]|not provided [RCV003884422] Chr14:104775655 [GRCh38]
Chr14:105241992 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=) single nucleotide variant AKT1-related condition [RCV003977667]|Cowden syndrome 6 [RCV000227423]|Inborn genetic diseases [RCV002338735]|not provided [RCV001561098] Chr14:104772446 [GRCh38]
Chr14:105238783 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001382430.1(AKT1):c.374C>T (p.Pro125Leu) single nucleotide variant Cowden syndrome 6 [RCV001368107]|Inborn genetic diseases [RCV002350701] Chr14:104775713 [GRCh38]
Chr14:105242050 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1191G>T (p.Glu397Asp) single nucleotide variant Cowden syndrome 6 [RCV000525011] Chr14:104772434 [GRCh38]
Chr14:105238771 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.33(chr14:105259639-105523673)x1 copy number loss See cases [RCV000240549] Chr14:105259639..105523673 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.531C>T (p.Ala177=) single nucleotide variant Inborn genetic diseases [RCV003311523] Chr14:104775112 [GRCh38]
Chr14:105241449 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.142C>T (p.Arg48Cys) single nucleotide variant Cowden syndrome 6 [RCV000531301] Chr14:104780121 [GRCh38]
Chr14:105246458 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.543C>G (p.Leu181=) single nucleotide variant Inborn genetic diseases [RCV003311521] Chr14:104775100 [GRCh38]
Chr14:105241437 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) single nucleotide variant Cowden syndrome 6 [RCV000989267]|not provided [RCV001595023]|not specified [RCV000597976] Chr14:104773557 [GRCh38]
Chr14:105239894 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.693C>T (p.Asn231=) single nucleotide variant Cowden syndrome 6 [RCV000537685] Chr14:104773921 [GRCh38]
Chr14:105240258 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=) single nucleotide variant AKT1-related condition [RCV003935508]|Cowden syndrome 6 [RCV000542011]|Inborn genetic diseases [RCV002341444]|not specified [RCV001000136] Chr14:104772431 [GRCh38]
Chr14:105238768 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.236A>G (p.Gln79Arg) single nucleotide variant Cowden syndrome 6 [RCV001851003]|not provided [RCV000413604] Chr14:104776710 [GRCh38]
Chr14:105243047 [GRCh37]
Chr14:14q32.33		 likely pathogenic|uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 copy number loss See cases [RCV000446081] Chr14:103711336..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001382430.1(AKT1):c.235C>A (p.Gln79Lys) single nucleotide variant Melanoma [RCV000422108] Chr14:104776711 [GRCh38]
Chr14:105243048 [GRCh37]
Chr14:14q32.33		 likely pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
NM_001382430.1(AKT1):c.783G>A (p.Leu261=) single nucleotide variant AKT1-related condition [RCV003970358]|Cowden syndrome 6 [RCV000466461]|Inborn genetic diseases [RCV002413304] Chr14:104773500 [GRCh38]
Chr14:105239837 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.705G>T (p.Leu235=) single nucleotide variant Cowden syndrome 6 [RCV000470550]|Inborn genetic diseases [RCV002367608] Chr14:104773578 [GRCh38]
Chr14:105239915 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.47-9C>T single nucleotide variant Cowden syndrome 6 [RCV000463511] Chr14:104780225 [GRCh38]
Chr14:105246562 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.46+10C>T single nucleotide variant Cowden syndrome 6 [RCV000467155] Chr14:104792588 [GRCh38]
Chr14:105258925 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.703-4G>A single nucleotide variant Cowden syndrome 6 [RCV000474658] Chr14:104773584 [GRCh38]
Chr14:105239921 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.267T>C (p.His89=) single nucleotide variant Cowden syndrome 6 [RCV001452373]|Inborn genetic diseases [RCV002431378]|not provided [RCV003401504] Chr14:104776679 [GRCh38]
Chr14:105243016 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.721C>T (p.Arg241Trp) single nucleotide variant Cowden syndrome 6 [RCV000456495] Chr14:104773562 [GRCh38]
Chr14:105239899 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.855C>T (p.Asp285=) single nucleotide variant Cowden syndrome 6 [RCV000460148]|Inborn genetic diseases [RCV002446905]|not provided [RCV003409648] Chr14:104773353 [GRCh38]
Chr14:105239690 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1038C>T (p.Arg346=) single nucleotide variant Cowden syndrome 6 [RCV001446090]|Inborn genetic diseases [RCV002395133] Chr14:104773012 [GRCh38]
Chr14:105239349 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.176-8G>A single nucleotide variant Cowden syndrome 6 [RCV000460335] Chr14:104776778 [GRCh38]
Chr14:105243115 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.604C>T (p.Leu202=) single nucleotide variant Cowden syndrome 6 [RCV000471677]|not provided [RCV001675908]|not specified [RCV001579825] Chr14:104774967 [GRCh38]
Chr14:105241304 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.558C>T (p.Ile186=) single nucleotide variant Cowden syndrome 6 [RCV000456949]|not provided [RCV001672796]|not specified [RCV001700192] Chr14:104775085 [GRCh38]
Chr14:105241422 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.828+4C>T single nucleotide variant Cowden syndrome 6 [RCV000460817] Chr14:104773451 [GRCh38]
Chr14:105239788 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.879C>T (p.Phe293=) single nucleotide variant Cowden syndrome 6 [RCV000476034]|Inborn genetic diseases [RCV002374866] Chr14:104773329 [GRCh38]
Chr14:105239666 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1341C>A (p.Ile447=) single nucleotide variant Cowden syndrome 6 [RCV001469687] Chr14:104770767 [GRCh38]
Chr14:105237104 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.7G>A (p.Asp3Asn) single nucleotide variant Cowden syndrome 6 [RCV000461062] Chr14:104792637 [GRCh38]
Chr14:105258974 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.431G>A (p.Arg144His) single nucleotide variant AKT1-related condition [RCV003401486]|Cowden syndrome 6 [RCV000457583]|Inborn genetic diseases [RCV002329071] Chr14:104775656 [GRCh38]
Chr14:105241993 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.288-3C>T single nucleotide variant Cowden syndrome 6 [RCV000468966] Chr14:104775802 [GRCh38]
Chr14:105242139 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.10G>A (p.Val4Met) single nucleotide variant Cowden syndrome 6 [RCV000472618] Chr14:104792634 [GRCh38]
Chr14:105258971 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.436-4A>G single nucleotide variant Cowden syndrome 6 [RCV001400573] Chr14:104775211 [GRCh38]
Chr14:105241548 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.763G>A (p.Ala255Thr) single nucleotide variant Cowden syndrome 6 [RCV000472766] Chr14:104773520 [GRCh38]
Chr14:105239857 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.660C>T (p.His220=) single nucleotide variant Cowden syndrome 6 [RCV000461950]|Inborn genetic diseases [RCV002374867] Chr14:104773954 [GRCh38]
Chr14:105240291 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.807C>T (p.Asn269=) single nucleotide variant Cowden syndrome 6 [RCV000465624]|Inborn genetic diseases [RCV002418483] Chr14:104773476 [GRCh38]
Chr14:105239813 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001382430.1(AKT1):c.126G>A (p.Pro42=) single nucleotide variant Cowden syndrome 6 [RCV000476958]|Inborn genetic diseases [RCV002374865] Chr14:104780137 [GRCh38]
Chr14:105246474 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.106A>G (p.Ile36Val) single nucleotide variant Cowden syndrome 6 [RCV000465998] Chr14:104780157 [GRCh38]
Chr14:105246494 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1260+4C>T single nucleotide variant Cowden syndrome 6 [RCV000469569] Chr14:104772361 [GRCh38]
Chr14:105238698 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.287+4C>T single nucleotide variant Cowden syndrome 6 [RCV000473230] Chr14:104776655 [GRCh38]
Chr14:105242992 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.438C>T (p.Thr146=) single nucleotide variant Cowden syndrome 6 [RCV000458557]|Inborn genetic diseases [RCV002329135] Chr14:104775205 [GRCh38]
Chr14:105241542 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.120G>A (p.Glu40=) single nucleotide variant Cowden syndrome 6 [RCV000554352]|Inborn genetic diseases [RCV002358601] Chr14:104780143 [GRCh38]
Chr14:105246480 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1 copy number loss See cases [RCV000511801] Chr14:103965059..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1 copy number loss See cases [RCV000511076] Chr14:104915608..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.520C>T (p.Arg174Cys) single nucleotide variant Cowden syndrome 6 [RCV000532235] Chr14:104775123 [GRCh38]
Chr14:105241460 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1320G>T (p.Glu440Asp) single nucleotide variant Cowden syndrome 6 [RCV000538250] Chr14:104770788 [GRCh38]
Chr14:105237125 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.345G>A (p.Glu115=) single nucleotide variant Inborn genetic diseases [RCV003301117] Chr14:104775742 [GRCh38]
Chr14:105242079 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.156C>T (p.Leu52=) single nucleotide variant Inborn genetic diseases [RCV003301118] Chr14:104780107 [GRCh38]
Chr14:105246444 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.798G>A (p.Ser266=) single nucleotide variant Cowden syndrome 6 [RCV000534158]|Inborn genetic diseases [RCV002420513] Chr14:104773485 [GRCh38]
Chr14:105239822 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.227G>A (p.Arg76His) single nucleotide variant Cowden syndrome 6 [RCV000556163] Chr14:104776719 [GRCh38]
Chr14:105243056 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.687C>T (p.Tyr229=) single nucleotide variant Cowden syndrome 6 [RCV000557115]|Inborn genetic diseases [RCV002367944]|not provided [RCV003403329] Chr14:104773927 [GRCh38]
Chr14:105240264 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.951C>A (p.Ala317=) single nucleotide variant Cowden syndrome 6 [RCV000534938]|Inborn genetic diseases [RCV002377160] Chr14:104773257 [GRCh38]
Chr14:105239594 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.770T>C (p.Ile257Thr) single nucleotide variant Cowden syndrome 6 [RCV000558043]|Inborn genetic diseases [RCV002404540] Chr14:104773513 [GRCh38]
Chr14:105239850 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.957+3G>A single nucleotide variant Cowden syndrome 6 [RCV001229553]|not specified [RCV000606636] Chr14:104773248 [GRCh38]
Chr14:105239585 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.287+5G>A single nucleotide variant Cowden syndrome 6 [RCV000651048] Chr14:104776654 [GRCh38]
Chr14:105242991 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) single nucleotide variant AKT1-related condition [RCV003927884]|Cowden syndrome 6 [RCV000205490]|Inborn genetic diseases [RCV002408899]|not provided [RCV001582715]|not specified [RCV000503783] Chr14:104772374 [GRCh38]
Chr14:105238711 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001382430.1(AKT1):c.545A>G (p.Lys182Arg) single nucleotide variant Cowden syndrome 6 [RCV000651044] Chr14:104775098 [GRCh38]
Chr14:105241435 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1099C>A (p.Arg367Ser) single nucleotide variant Cowden syndrome 6 [RCV000651045] Chr14:104772951 [GRCh38]
Chr14:105239288 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1361A>G (p.Gln454Arg) single nucleotide variant Cowden syndrome 6 [RCV000651046]|Inborn genetic diseases [RCV002386104] Chr14:104770747 [GRCh38]
Chr14:105237084 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.440T>C (p.Met147Thr) single nucleotide variant Cowden syndrome 6 [RCV000651047]|Inborn genetic diseases [RCV002331254] Chr14:104775203 [GRCh38]
Chr14:105241540 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.917T>C (p.Met306Thr) single nucleotide variant Cowden syndrome 6 [RCV000651043] Chr14:104773291 [GRCh38]
Chr14:105239628 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.828+7del deletion Cowden syndrome 6 [RCV000651049] Chr14:104773448 [GRCh38]
Chr14:105239785 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1290G>A (p.Thr430=) single nucleotide variant Cowden syndrome 6 [RCV000651050]|Inborn genetic diseases [RCV002386105] Chr14:104770818 [GRCh38]
Chr14:105237155 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.176-4G>A single nucleotide variant Cowden syndrome 6 [RCV000651051] Chr14:104776774 [GRCh38]
Chr14:105243111 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.703-5C>T single nucleotide variant Cowden syndrome 6 [RCV001421498] Chr14:104773585 [GRCh38]
Chr14:105239922 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.46+10C>G single nucleotide variant Cowden syndrome 6 [RCV000651053] Chr14:104792588 [GRCh38]
Chr14:105258925 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.81C>T (p.Phe27=) single nucleotide variant Cowden syndrome 6 [RCV000651054]|Inborn genetic diseases [RCV002424528] Chr14:104780182 [GRCh38]
Chr14:105246519 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.570C>T (p.Asp190=) single nucleotide variant Cowden syndrome 6 [RCV000651059]|Inborn genetic diseases [RCV002343370] Chr14:104775001 [GRCh38]
Chr14:105241338 [GRCh37]
Chr14:14q32.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001382430.1(AKT1):c.195G>A (p.Thr65=) single nucleotide variant Cowden syndrome 6 [RCV000651055]|Inborn genetic diseases [RCV002422403] Chr14:104776751 [GRCh38]
Chr14:105243088 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1134C>T (p.Ser378=) single nucleotide variant Cowden syndrome 6 [RCV000651056]|Inborn genetic diseases [RCV002325307] Chr14:104772916 [GRCh38]
Chr14:105239253 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.906C>T (p.Asp302=) single nucleotide variant Cowden syndrome 6 [RCV000651057]|Inborn genetic diseases [RCV002369751] Chr14:104773302 [GRCh38]
Chr14:105239639 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.525C>T (p.Tyr175=) single nucleotide variant Cowden syndrome 6 [RCV000651060]|Inborn genetic diseases [RCV002334194] Chr14:104775118 [GRCh38]
Chr14:105241455 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.457C>T (p.Leu153=) single nucleotide variant Cowden syndrome 6 [RCV000651061] Chr14:104775186 [GRCh38]
Chr14:105241523 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.705G>A (p.Leu235=) single nucleotide variant Cowden syndrome 6 [RCV000651062]|Inborn genetic diseases [RCV002360653] Chr14:104773578 [GRCh38]
Chr14:105239915 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1293G>A (p.Ser431=) single nucleotide variant Cowden syndrome 6 [RCV000651063]|Inborn genetic diseases [RCV002386106] Chr14:104770815 [GRCh38]
Chr14:105237152 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.528C>T (p.Tyr176=) single nucleotide variant Cowden syndrome 6 [RCV000651058]|Inborn genetic diseases [RCV002343369] Chr14:104775115 [GRCh38]
Chr14:105241452 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.423C>G (p.Pro141=) single nucleotide variant Inborn genetic diseases [RCV003311522] Chr14:104775664 [GRCh38]
Chr14:105242001 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1379G>T (p.Cys460Phe) single nucleotide variant Inborn genetic diseases [RCV003311524] Chr14:104770405 [GRCh38]
Chr14:105236742 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1252G>A (p.Glu418Lys) single nucleotide variant not provided [RCV000585255] Chr14:104772373 [GRCh38]
Chr14:105238710 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.107T>C (p.Ile36Thr) single nucleotide variant Cowden syndrome 6 [RCV000686512] Chr14:104780156 [GRCh38]
Chr14:105246493 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1261C>T (p.Leu421Phe) single nucleotide variant Cowden syndrome 6 [RCV000690076] Chr14:104770847 [GRCh38]
Chr14:105237184 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.176-5C>T single nucleotide variant Cowden syndrome 6 [RCV000706963] Chr14:104776775 [GRCh38]
Chr14:105243112 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.1390G>A (p.Glu464Lys) single nucleotide variant Cowden syndrome 6 [RCV000709350] Chr14:104770394 [GRCh38]
Chr14:105236731 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.356A>G (p.Asp119Gly) single nucleotide variant Cowden syndrome 6 [RCV000709351]|Inborn genetic diseases [RCV002458330] Chr14:104775731 [GRCh38]
Chr14:105242068 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.176-5C>A single nucleotide variant Cowden syndrome 6 [RCV000709352]|not provided [RCV003736896] Chr14:104776775 [GRCh38]
Chr14:105243112 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1159G>A (p.Asp387Asn) single nucleotide variant Cowden syndrome 6 [RCV000699382] Chr14:104772891 [GRCh38]
Chr14:105239228 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.4A>G (p.Ser2Gly) single nucleotide variant Cowden syndrome 6 [RCV000688933] Chr14:104792640 [GRCh38]
Chr14:105258977 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.751C>T (p.Arg251Cys) single nucleotide variant Cowden syndrome 6 [RCV000691797]|Inborn genetic diseases [RCV003163155] Chr14:104773532 [GRCh38]
Chr14:105239869 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1109G>A (p.Arg370His) single nucleotide variant Cowden syndrome 6 [RCV000706299] Chr14:104772941 [GRCh38]
Chr14:105239278 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.828+5G>A single nucleotide variant Cowden syndrome 6 [RCV000697348] Chr14:104773450 [GRCh38]
Chr14:105239787 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.430C>T (p.Arg144Cys) single nucleotide variant Cowden syndrome 6 [RCV000704448] Chr14:104775657 [GRCh38]
Chr14:105241994 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.436-3T>C single nucleotide variant AKT1-related condition [RCV003965445]|Cowden syndrome 6 [RCV000695568] Chr14:104775210 [GRCh38]
Chr14:105241547 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.143G>A (p.Arg48His) single nucleotide variant Cowden syndrome 6 [RCV000695576] Chr14:104780120 [GRCh38]
Chr14:105246457 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1432G>A (p.Gly478Ser) single nucleotide variant Cowden syndrome 6 [RCV000697095] Chr14:104770352 [GRCh38]
Chr14:105236689 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105239594-105285159)x1 copy number loss not provided [RCV000738615] Chr14:105239594..105285159 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105080065-106067618)x1 copy number loss not provided [RCV000738611] Chr14:105080065..106067618 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105222037-105285159)x1 copy number loss not provided [RCV000738613] Chr14:105222037..105285159 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105236732-105399263)x3 copy number gain not provided [RCV000738614] Chr14:105236732..105399263 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105241992-105277209)x1 copy number loss not provided [RCV000738616] Chr14:105241992..105277209 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105259706-105285159)x1 copy number loss not provided [RCV000738617] Chr14:105259706..105285159 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.46+43G>A single nucleotide variant not provided [RCV001539775] Chr14:104792555 [GRCh38]
Chr14:105258892 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1278G>A (p.Lys426=) single nucleotide variant Cowden syndrome 6 [RCV001401971] Chr14:104770830 [GRCh38]
Chr14:105237167 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.294G>A (p.Glu98=) single nucleotide variant Cowden syndrome 6 [RCV001430607]|Inborn genetic diseases [RCV003307772] Chr14:104775793 [GRCh38]
Chr14:105242130 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.175+100A>T single nucleotide variant Cowden syndrome 6 [RCV001510588]|not provided [RCV000860785] Chr14:104779988 [GRCh38]
Chr14:105246325 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.176-261G>A single nucleotide variant not provided [RCV001583846] Chr14:104777031 [GRCh38]
Chr14:105243368 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1261-217T>C single nucleotide variant not provided [RCV001708383] Chr14:104771064 [GRCh38]
Chr14:105237401 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.179G>A (p.Cys60Tyr) single nucleotide variant Cowden syndrome 6 [RCV001065500] Chr14:104776767 [GRCh38]
Chr14:105243104 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.703-125G>A single nucleotide variant not provided [RCV001577056] Chr14:104773705 [GRCh38]
Chr14:105240042 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-305_288-269del deletion not provided [RCV001708486] Chr14:104776068..104776104 [GRCh38]
Chr14:105242405..105242441 [GRCh37]
Chr14:14q32.33		 benign
NC_000014.9:g.(?_104792588)_(104792643_?)dup duplication Cowden syndrome 6 [RCV001031617] Chr14:105258925..105258980 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1261-196C>T single nucleotide variant not provided [RCV001549992] Chr14:104771043 [GRCh38]
Chr14:105237380 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.606G>A (p.Leu202=) single nucleotide variant Cowden syndrome 6 [RCV000868290]|Inborn genetic diseases [RCV002352554] Chr14:104774965 [GRCh38]
Chr14:105241302 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.483C>T (p.Phe161=) single nucleotide variant Cowden syndrome 6 [RCV000869154]|Inborn genetic diseases [RCV002336805] Chr14:104775160 [GRCh38]
Chr14:105241497 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.324C>T (p.Asp108=) single nucleotide variant Cowden syndrome 6 [RCV001417461]|Inborn genetic diseases [RCV002320168] Chr14:104775763 [GRCh38]
Chr14:105242100 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1416C>T (p.Phe472=) single nucleotide variant AKT1-related condition [RCV003928401]|Cowden syndrome 6 [RCV000867671]|Inborn genetic diseases [RCV002390786] Chr14:104770368 [GRCh38]
Chr14:105236705 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.567+9G>A single nucleotide variant AKT1-related condition [RCV003930372]|Cowden syndrome 6 [RCV000867862] Chr14:104775067 [GRCh38]
Chr14:105241404 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.696G>A (p.Gly232=) single nucleotide variant Cowden syndrome 6 [RCV001421508]|Inborn genetic diseases [RCV002363248] Chr14:104773918 [GRCh38]
Chr14:105240255 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+7C>T single nucleotide variant Cowden syndrome 6 [RCV003539380] Chr14:104772358 [GRCh38]
Chr14:105238695 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.612C>T (p.Asn204=) single nucleotide variant Cowden syndrome 6 [RCV000884027]|Inborn genetic diseases [RCV003169228] Chr14:104774959 [GRCh38]
Chr14:105241296 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.703-7C>T single nucleotide variant not provided [RCV000942936] Chr14:104773587 [GRCh38]
Chr14:105239924 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.810G>A (p.Val270=) single nucleotide variant Cowden syndrome 6 [RCV000864482]|Inborn genetic diseases [RCV003169110] Chr14:104773473 [GRCh38]
Chr14:105239810 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1172+9C>T single nucleotide variant AKT1-related condition [RCV003895321]|Cowden syndrome 6 [RCV000871617] Chr14:104772869 [GRCh38]
Chr14:105239206 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1188C>T (p.Ser396=) single nucleotide variant Cowden syndrome 6 [RCV001462135]|Inborn genetic diseases [RCV003307758]|not provided [RCV000950956] Chr14:104772437 [GRCh38]
Chr14:105238774 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1289C>T (p.Thr430Met) single nucleotide variant Cowden syndrome 6 [RCV001058485] Chr14:104770819 [GRCh38]
Chr14:105237156 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.599G>A (p.Arg200His) single nucleotide variant Cowden syndrome 6 [RCV001062205] Chr14:104774972 [GRCh38]
Chr14:105241309 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1005G>A (p.Leu335=) single nucleotide variant Cowden syndrome 6 [RCV001049600]|Inborn genetic diseases [RCV003372957] Chr14:104773045 [GRCh38]
Chr14:105239382 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.1260+5G>A single nucleotide variant AKT1-related condition [RCV003413852]|Cowden syndrome 6 [RCV001051127] Chr14:104772360 [GRCh38]
Chr14:105238697 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.415G>C (p.Ala139Pro) single nucleotide variant Cowden syndrome 6 [RCV001068896]|Inborn genetic diseases [RCV002327359] Chr14:104775672 [GRCh38]
Chr14:105242009 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.101C>A (p.Thr34Asn) single nucleotide variant Cowden syndrome 6 [RCV001060365] Chr14:104780162 [GRCh38]
Chr14:105246499 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.199C>T (p.Arg67Trp) single nucleotide variant Cowden syndrome 6 [RCV001054367] Chr14:104776747 [GRCh38]
Chr14:105243084 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.916A>G (p.Met306Val) single nucleotide variant Cowden syndrome 6 [RCV001057604] Chr14:104773292 [GRCh38]
Chr14:105239629 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.377G>C (p.Ser126Thr) single nucleotide variant Cowden syndrome 6 [RCV001040405] Chr14:104775710 [GRCh38]
Chr14:105242047 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.907G>A (p.Gly303Ser) single nucleotide variant Cowden syndrome 6 [RCV000792229] Chr14:104773301 [GRCh38]
Chr14:105239638 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
NM_001382430.1(AKT1):c.797C>T (p.Ser266Leu) single nucleotide variant Cowden syndrome 6 [RCV000806321] Chr14:104773486 [GRCh38]
Chr14:105239823 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.669C>G (p.Leu223=) single nucleotide variant Cowden syndrome 6 [RCV001477223]|Inborn genetic diseases [RCV002363249] Chr14:104773945 [GRCh38]
Chr14:105240282 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1364-10A>G single nucleotide variant AKT1-related condition [RCV003908189]|Cowden syndrome 6 [RCV000863245] Chr14:104770430 [GRCh38]
Chr14:105236767 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.47-8G>T single nucleotide variant Cowden syndrome 6 [RCV002541525] Chr14:104780224 [GRCh38]
Chr14:105246561 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1107G>A (p.Pro369=) single nucleotide variant Cowden syndrome 6 [RCV000867928]|Inborn genetic diseases [RCV002434102] Chr14:104772943 [GRCh38]
Chr14:105239280 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.387A>G (p.Ser129=) single nucleotide variant Cowden syndrome 6 [RCV000873199]|Inborn genetic diseases [RCV002363280] Chr14:104775700 [GRCh38]
Chr14:105242037 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1122C>T (p.Pro374=) single nucleotide variant Cowden syndrome 6 [RCV000866850]|Inborn genetic diseases [RCV002434094]|not provided [RCV003396510] Chr14:104772928 [GRCh38]
Chr14:105239265 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.453G>A (p.Glu151=) single nucleotide variant Cowden syndrome 6 [RCV000876363]|Inborn genetic diseases [RCV002336852] Chr14:104775190 [GRCh38]
Chr14:105241527 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.49_50delinsAG (p.Glu17Arg) indel Proteus syndrome [RCV000984546] Chr14:104780213..104780214 [GRCh38]
Chr14:105246550..105246551 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001382430.1(AKT1):c.1161C>T (p.Asp387=) single nucleotide variant Cowden syndrome 6 [RCV000941132]|Inborn genetic diseases [RCV002372624] Chr14:104772889 [GRCh38]
Chr14:105239226 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.717G>A (p.Leu239=) single nucleotide variant Inborn genetic diseases [RCV003311520] Chr14:104773566 [GRCh38]
Chr14:105239903 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1172+10G>A single nucleotide variant Cowden syndrome 6 [RCV001441652] Chr14:104772868 [GRCh38]
Chr14:105239205 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.828+5G>C single nucleotide variant Cowden syndrome 6 [RCV000793560] Chr14:104773450 [GRCh38]
Chr14:105239787 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.176-3C>G single nucleotide variant Cowden syndrome 6 [RCV000792227] Chr14:104776773 [GRCh38]
Chr14:105243110 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.117G>A (p.Lys39=) single nucleotide variant Cowden syndrome 6 [RCV000816843] Chr14:104780146 [GRCh38]
Chr14:105246483 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1112C>A (p.Thr371Lys) single nucleotide variant Cowden syndrome 6 [RCV000817003] Chr14:104772938 [GRCh38]
Chr14:105239275 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.512C>T (p.Ala171Val) single nucleotide variant Cowden syndrome 6 [RCV000792339] Chr14:104775131 [GRCh38]
Chr14:105241468 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1 copy number loss not provided [RCV000848291] Chr14:105067651..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.745C>T (p.Arg249Trp) single nucleotide variant Cowden syndrome 6 [RCV000819636] Chr14:104773538 [GRCh38]
Chr14:105239875 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1099C>T (p.Arg367Cys) single nucleotide variant Cowden syndrome 6 [RCV000815958] Chr14:104772951 [GRCh38]
Chr14:105239288 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.362G>A (p.Arg121Gln) single nucleotide variant Cowden syndrome 6 [RCV000816394]|Inborn genetic diseases [RCV002453857]|not specified [RCV003987712] Chr14:104775725 [GRCh38]
Chr14:105242062 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.692A>G (p.Asn231Ser) single nucleotide variant Cowden syndrome 6 [RCV000818537] Chr14:104773922 [GRCh38]
Chr14:105240259 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.394G>A (p.Glu132Lys) single nucleotide variant Cowden syndrome 6 [RCV001068031] Chr14:104775693 [GRCh38]
Chr14:105242030 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.175+5G>A single nucleotide variant Cowden syndrome 6 [RCV000805032] Chr14:104780083 [GRCh38]
Chr14:105246420 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1198A>G (p.Lys400Glu) single nucleotide variant Cowden syndrome 6 [RCV000822640]|not provided [RCV003238246] Chr14:104772427 [GRCh38]
Chr14:105238764 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.829-4C>T single nucleotide variant Cowden syndrome 6 [RCV000822927] Chr14:104773383 [GRCh38]
Chr14:105239720 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1195G>A (p.Ala399Thr) single nucleotide variant Cowden syndrome 6 [RCV000792970] Chr14:104772430 [GRCh38]
Chr14:105238767 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1112C>T (p.Thr371Met) single nucleotide variant Cowden syndrome 6 [RCV001043127]|Inborn genetic diseases [RCV002436561] Chr14:104772938 [GRCh38]
Chr14:105239275 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.47-4_47-3del deletion Cowden syndrome 6 [RCV001202823] Chr14:104780219..104780220 [GRCh38]
Chr14:105246556..105246557 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.727C>T (p.Arg243Cys) single nucleotide variant Cowden syndrome 6 [RCV001231204] Chr14:104773556 [GRCh38]
Chr14:105239893 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1216C>T (p.Arg406Cys) single nucleotide variant Cowden syndrome 6 [RCV001217031] Chr14:104772409 [GRCh38]
Chr14:105238746 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.288-9_288-8delinsGA indel Cowden syndrome 6 [RCV001209397] Chr14:104775807..104775808 [GRCh38]
Chr14:105242144..105242145 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.796T>G (p.Ser266Ala) single nucleotide variant Cowden syndrome 6 [RCV001209400] Chr14:104773487 [GRCh38]
Chr14:105239824 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.722G>A (p.Arg241Gln) single nucleotide variant Cowden syndrome 6 [RCV001238573] Chr14:104773561 [GRCh38]
Chr14:105239898 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1172+4A>C single nucleotide variant Cowden syndrome 6 [RCV000989266] Chr14:104772874 [GRCh38]
Chr14:105239211 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1189G>C (p.Glu397Gln) single nucleotide variant Cowden syndrome 6 [RCV001210615] Chr14:104772436 [GRCh38]
Chr14:105238773 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1 copy number loss not provided [RCV001006659] Chr14:104764078..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001382430.1(AKT1):c.957+6C>T single nucleotide variant Cowden syndrome 6 [RCV003106920] Chr14:104773245 [GRCh38]
Chr14:105239582 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_001382430.1(AKT1):c.1172+207C>T single nucleotide variant not provided [RCV001568432] Chr14:104772671 [GRCh38]
Chr14:105239008 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-238C>T single nucleotide variant not provided [RCV001686978] Chr14:104776037 [GRCh38]
Chr14:105242374 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1173-31C>G single nucleotide variant not provided [RCV001688821] Chr14:104772483 [GRCh38]
Chr14:105238820 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.47-319T>C single nucleotide variant not provided [RCV001589827] Chr14:104780535 [GRCh38]
Chr14:105246872 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-92A>G single nucleotide variant not provided [RCV001709868] Chr14:104775891 [GRCh38]
Chr14:105242228 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1260+98G>A single nucleotide variant not provided [RCV001639535] Chr14:104772267 [GRCh38]
Chr14:105238604 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.47-133C>T single nucleotide variant not provided [RCV001693663] Chr14:104780349 [GRCh38]
Chr14:105246686 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.288-121G>A single nucleotide variant not provided [RCV001570133] Chr14:104775920 [GRCh38]
Chr14:105242257 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-281_288-265del deletion not provided [RCV001620246] Chr14:104776064..104776080 [GRCh38]
Chr14:105242401..105242417 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.702+138C>T single nucleotide variant not provided [RCV001656489] Chr14:104773774 [GRCh38]
Chr14:105240111 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1260+66C>G single nucleotide variant not provided [RCV001609540] Chr14:104772299 [GRCh38]
Chr14:105238636 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.-45C>G single nucleotide variant not provided [RCV001575682] Chr14:104792688 [GRCh38]
Chr14:105259025 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.287+30A>G single nucleotide variant not provided [RCV001686511] Chr14:104776629 [GRCh38]
Chr14:105242966 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1260+93C>T single nucleotide variant not provided [RCV001592646] Chr14:104772272 [GRCh38]
Chr14:105238609 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.702+33C>T single nucleotide variant not provided [RCV001686133] Chr14:104773879 [GRCh38]
Chr14:105240216 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.47-139A>T single nucleotide variant not provided [RCV001620877] Chr14:104780355 [GRCh38]
Chr14:105246692 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.288-273T>G single nucleotide variant not provided [RCV001670996] Chr14:104776072 [GRCh38]
Chr14:105242409 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.303C>T (p.Thr101=) single nucleotide variant Cowden syndrome 6 [RCV000954343]|Inborn genetic diseases [RCV002445108] Chr14:104775784 [GRCh38]
Chr14:105242121 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.237G>A (p.Gln79=) single nucleotide variant Cowden syndrome 6 [RCV000861827]|Inborn genetic diseases [RCV002453938] Chr14:104776709 [GRCh38]
Chr14:105243046 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.960G>A (p.Val320=) single nucleotide variant Cowden syndrome 6 [RCV001394099] Chr14:104773090 [GRCh38]
Chr14:105239427 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.201G>T (p.Arg67=) single nucleotide variant Cowden syndrome 6 [RCV001446133]|Inborn genetic diseases [RCV002416228] Chr14:104776745 [GRCh38]
Chr14:105243082 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1104C>T (p.Phe368=) single nucleotide variant Cowden syndrome 6 [RCV001401529]|Inborn genetic diseases [RCV003169339] Chr14:104772946 [GRCh38]
Chr14:105239283 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1363+9C>T single nucleotide variant Cowden syndrome 6 [RCV001437154]|not provided [RCV000871984] Chr14:104770736 [GRCh38]
Chr14:105237073 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.387A>C (p.Ser129=) single nucleotide variant Inborn genetic diseases [RCV003307688]|not provided [RCV000919793] Chr14:104775700 [GRCh38]
Chr14:105242037 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.591C>T (p.Thr197=) single nucleotide variant Cowden syndrome 6 [RCV000875161]|Inborn genetic diseases [RCV002354692] Chr14:104774980 [GRCh38]
Chr14:105241317 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-7_288-5del microsatellite Cowden syndrome 6 [RCV001498892] Chr14:104775804..104775806 [GRCh38]
Chr14:105242141..105242143 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.495C>T (p.Ile165=) single nucleotide variant Cowden syndrome 6 [RCV001421970]|Inborn genetic diseases [RCV002336836] Chr14:104775148 [GRCh38]
Chr14:105241485 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.348G>A (p.Glu116=) single nucleotide variant Cowden syndrome 6 [RCV001398818]|Inborn genetic diseases [RCV002454084] Chr14:104775739 [GRCh38]
Chr14:105242076 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1053C>T (p.Asn351=) single nucleotide variant Cowden syndrome 6 [RCV000864249]|Inborn genetic diseases [RCV002399879] Chr14:104772997 [GRCh38]
Chr14:105239334 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.665G>A (p.Arg222His) single nucleotide variant Cowden syndrome 6 [RCV001221913] Chr14:104773949 [GRCh38]
Chr14:105240286 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.278C>A (p.Pro93His) single nucleotide variant Cowden syndrome 6 [RCV001225813] Chr14:104776668 [GRCh38]
Chr14:105243005 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1234G>A (p.Val412Met) single nucleotide variant Cowden syndrome 6 [RCV001222243]|Inborn genetic diseases [RCV002375207] Chr14:104772391 [GRCh38]
Chr14:105238728 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.635C>G (p.Ala212Gly) single nucleotide variant Cowden syndrome 6 [RCV001213499] Chr14:104773979 [GRCh38]
Chr14:105240316 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.122G>A (p.Arg41Gln) single nucleotide variant Cowden syndrome 6 [RCV001227660] Chr14:104780141 [GRCh38]
Chr14:105246478 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.521G>A (p.Arg174His) single nucleotide variant Cowden syndrome 6 [RCV001225652] Chr14:104775122 [GRCh38]
Chr14:105241459 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.765T>G (p.Ala255=) single nucleotide variant Inborn genetic diseases [RCV002390900]|not provided [RCV000913827] Chr14:104773518 [GRCh38]
Chr14:105239855 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.567+14G>A single nucleotide variant Cowden syndrome 6 [RCV002072003]|not provided [RCV001546715]|not specified [RCV001579332] Chr14:104775062 [GRCh38]
Chr14:105241399 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001382430.1(AKT1):c.436-63C>T single nucleotide variant not provided [RCV001597788] Chr14:104775270 [GRCh38]
Chr14:105241607 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.287+170G>T single nucleotide variant not provided [RCV001597825] Chr14:104776489 [GRCh38]
Chr14:105242826 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1260+190C>T single nucleotide variant not provided [RCV001575239] Chr14:104772175 [GRCh38]
Chr14:105238512 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.287+165G>A single nucleotide variant not provided [RCV001677381] Chr14:104776494 [GRCh38]
Chr14:105242831 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1100G>A (p.Arg367His) single nucleotide variant not provided [RCV002464878] Chr14:104772950 [GRCh38]
Chr14:105239287 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1172+71G>A single nucleotide variant not provided [RCV001566287] Chr14:104772807 [GRCh38]
Chr14:105239144 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-309_288-270del deletion not provided [RCV001676936] Chr14:104776069..104776108 [GRCh38]
Chr14:105242406..105242445 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.46+42T>C single nucleotide variant not provided [RCV001638988] Chr14:104792556 [GRCh38]
Chr14:105258893 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.288-321C>T single nucleotide variant not provided [RCV001596577] Chr14:104776120 [GRCh38]
Chr14:105242457 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.567+35G>A single nucleotide variant not provided [RCV001695924] Chr14:104775041 [GRCh38]
Chr14:105241378 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.653A>C (p.Gln218Pro) single nucleotide variant Familial cancer of breast [RCV001528119] Chr14:104773961 [GRCh38]
Chr14:105240298 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1172+23A>G single nucleotide variant not provided [RCV001619316] Chr14:104772855 [GRCh38]
Chr14:105239192 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1363+52_1363+55del microsatellite not provided [RCV001656372] Chr14:104770690..104770693 [GRCh38]
Chr14:105237027..105237030 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1173-165G>A single nucleotide variant not provided [RCV001617733] Chr14:104772617 [GRCh38]
Chr14:105238954 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.176-113C>T single nucleotide variant not provided [RCV001676873] Chr14:104776883 [GRCh38]
Chr14:105243220 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.176-328C>A single nucleotide variant not provided [RCV001685762] Chr14:104777098 [GRCh38]
Chr14:105243435 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.287+170G>A single nucleotide variant not provided [RCV001685985] Chr14:104776489 [GRCh38]
Chr14:105242826 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.288-289dup duplication not provided [RCV001693550] Chr14:104776080..104776081 [GRCh38]
Chr14:105242417..105242418 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.176-245C>A single nucleotide variant not provided [RCV001586658] Chr14:104777015 [GRCh38]
Chr14:105243352 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.47-128C>T single nucleotide variant not provided [RCV001667239] Chr14:104780344 [GRCh38]
Chr14:105246681 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.47-76C>T single nucleotide variant not provided [RCV001527886] Chr14:104780292 [GRCh38]
Chr14:105246629 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.634-133G>A single nucleotide variant not provided [RCV001709046] Chr14:104774113 [GRCh38]
Chr14:105240450 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1108C>T (p.Arg370Cys) single nucleotide variant Cowden syndrome 6 [RCV001045694] Chr14:104772942 [GRCh38]
Chr14:105239279 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.340GAG[3] (p.Glu117del) microsatellite Cowden syndrome 6 [RCV001056027] Chr14:104775736..104775738 [GRCh38]
Chr14:105242073..105242075 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.567+16T>G single nucleotide variant Familial cancer of breast [RCV001197033] Chr14:104775060 [GRCh38]
Chr14:105241397 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.365C>T (p.Ser122Leu) single nucleotide variant Cowden syndrome 6 [RCV001039573] Chr14:104775722 [GRCh38]
Chr14:105242059 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.325G>A (p.Gly109Ser) single nucleotide variant Cowden syndrome 6 [RCV001230428]|Inborn genetic diseases [RCV002322110] Chr14:104775762 [GRCh38]
Chr14:105242099 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.664C>T (p.Arg222Cys) single nucleotide variant Cowden syndrome 6 [RCV001058318] Chr14:104773950 [GRCh38]
Chr14:105240287 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1008C>T (p.Gly336=) single nucleotide variant Cowden syndrome 6 [RCV001219427]|Inborn genetic diseases [RCV003163688] Chr14:104773042 [GRCh38]
Chr14:105239379 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NC_000014.9:g.(?_104677659)_(104957672_?)del deletion not provided [RCV001032275] Chr14:105143996..105424009 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001382430.1(AKT1):c.828+6C>G single nucleotide variant Cowden syndrome 6 [RCV001215152] Chr14:104773449 [GRCh38]
Chr14:105239786 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.799G>A (p.Glu267Lys) single nucleotide variant Cowden syndrome 6 [RCV001234146] Chr14:104773484 [GRCh38]
Chr14:105239821 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_001382430.1(AKT1):c.1172+5G>A single nucleotide variant Cowden syndrome 6 [RCV001230619] Chr14:104772873 [GRCh38]
Chr14:105239210 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1173G>A (p.Arg391=) single nucleotide variant Cowden syndrome 6 [RCV001295011]|Inborn genetic diseases [RCV003166637] Chr14:104772452 [GRCh38]
Chr14:105238789 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
GRCh37/hg19 14q32.33(chr14:105204147-105543486)x3 copy number gain not provided [RCV001259802] Chr14:105204147..105543486 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1321_1322delinsTT (p.Glu441Leu) indel not provided [RCV002280559] Chr14:104770786..104770787 [GRCh38]
Chr14:105237123..105237124 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.33(chr14:105112467-105285280)x3 copy number gain not provided [RCV001258580] Chr14:105112467..105285280 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.349G>A (p.Glu117Lys) single nucleotide variant Cowden syndrome 6 [RCV001338081] Chr14:104775738 [GRCh38]
Chr14:105242075 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1440C>G (p.Ala480=) single nucleotide variant Cowden syndrome 6 [RCV001307428] Chr14:104770344 [GRCh38]
Chr14:105236681 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.957+3G>T single nucleotide variant Cowden syndrome 6 [RCV001351018] Chr14:104773248 [GRCh38]
Chr14:105239585 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.983G>A (p.Arg328His) single nucleotide variant Cowden syndrome 6 [RCV001342867] Chr14:104773067 [GRCh38]
Chr14:105239404 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.68G>A (p.Arg23Gln) single nucleotide variant Cowden syndrome 6 [RCV001294691] Chr14:104780195 [GRCh38]
Chr14:105246532 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.661G>A (p.Asp221Asn) single nucleotide variant Cowden syndrome 6 [RCV001342648] Chr14:104773953 [GRCh38]
Chr14:105240290 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1173-6C>G single nucleotide variant Cowden syndrome 6 [RCV001300248] Chr14:104772458 [GRCh38]
Chr14:105238795 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.16A>G (p.Ile6Val) single nucleotide variant Cowden syndrome 6 [RCV001306742] Chr14:104792628 [GRCh38]
Chr14:105258965 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.749C>T (p.Ala250Val) single nucleotide variant Cowden syndrome 6 [RCV001338158] Chr14:104773534 [GRCh38]
Chr14:105239871 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1172+9C>A single nucleotide variant Cowden syndrome 6 [RCV001433902] Chr14:104772869 [GRCh38]
Chr14:105239206 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.641A>G (p.Lys214Arg) single nucleotide variant Cowden syndrome 6 [RCV001362182] Chr14:104773973 [GRCh38]
Chr14:105240310 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1372A>G (p.Met458Val) single nucleotide variant Cowden syndrome 6 [RCV001344733]|Inborn genetic diseases [RCV002384473] Chr14:104770412 [GRCh38]
Chr14:105236749 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.954C>A (p.Pro318=) single nucleotide variant Cowden syndrome 6 [RCV001346452]|Inborn genetic diseases [RCV002377469] Chr14:104773254 [GRCh38]
Chr14:105239591 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.1130A>G (p.Lys377Arg) single nucleotide variant Cowden syndrome 6 [RCV001323953]|Inborn genetic diseases [RCV002322247] Chr14:104772920 [GRCh38]
Chr14:105239257 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.719C>G (p.Ser240Cys) single nucleotide variant Cowden syndrome 6 [RCV001340694]|Inborn genetic diseases [RCV002377445] Chr14:104773564 [GRCh38]
Chr14:105239901 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1260+1G>C single nucleotide variant Cowden syndrome 6 [RCV001321935] Chr14:104772364 [GRCh38]
Chr14:105238701 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.567+5G>T single nucleotide variant Cowden syndrome 6 [RCV001313177] Chr14:104775071 [GRCh38]
Chr14:105241408 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1277A>C (p.Lys426Thr) single nucleotide variant Cowden syndrome 6 [RCV001316009] Chr14:104770831 [GRCh38]
Chr14:105237168 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1393C>T (p.Arg465Cys) single nucleotide variant Cowden syndrome 6 [RCV001317986] Chr14:104770391 [GRCh38]
Chr14:105236728 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1436C>T (p.Thr479Met) single nucleotide variant Cowden syndrome 6 [RCV001303882] Chr14:104770348 [GRCh38]
Chr14:105236685 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1088T>C (p.Met363Thr) single nucleotide variant Cowden syndrome 6 [RCV001298901] Chr14:104772962 [GRCh38]
Chr14:105239299 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.957+7G>A single nucleotide variant Cowden syndrome 6 [RCV001461609] Chr14:104773244 [GRCh38]
Chr14:105239581 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.927T>C (p.Phe309=) single nucleotide variant Cowden syndrome 6 [RCV001454370]|Inborn genetic diseases [RCV002377753] Chr14:104773281 [GRCh38]
Chr14:105239618 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.47-4G>T single nucleotide variant Cowden syndrome 6 [RCV001417354] Chr14:104780220 [GRCh38]
Chr14:105246557 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.633+9G>A single nucleotide variant Cowden syndrome 6 [RCV001504937] Chr14:104774929 [GRCh38]
Chr14:105241266 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.6C>T (p.Ser2=) single nucleotide variant Cowden syndrome 6 [RCV001491311]|Inborn genetic diseases [RCV002368505] Chr14:104792638 [GRCh38]
Chr14:105258975 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1119T>A (p.Gly373=) single nucleotide variant Cowden syndrome 6 [RCV001437294]|Inborn genetic diseases [RCV002439024] Chr14:104772931 [GRCh38]
Chr14:105239268 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1107G>C (p.Pro369=) single nucleotide variant Cowden syndrome 6 [RCV001471878] Chr14:104772943 [GRCh38]
Chr14:105239280 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.750C>G (p.Ala250=) single nucleotide variant Cowden syndrome 6 [RCV001467091]|Inborn genetic diseases [RCV002396104] Chr14:104773533 [GRCh38]
Chr14:105239870 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.412C>T (p.Leu138=) single nucleotide variant Cowden syndrome 6 [RCV001426533]|Inborn genetic diseases [RCV003160711] Chr14:104775675 [GRCh38]
Chr14:105242012 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1113G>C (p.Thr371=) single nucleotide variant Cowden syndrome 6 [RCV001434939]|Inborn genetic diseases [RCV002439016] Chr14:104772937 [GRCh38]
Chr14:105239274 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1011G>A (p.Val337=) single nucleotide variant Cowden syndrome 6 [RCV001467575]|Inborn genetic diseases [RCV002456803] Chr14:104773039 [GRCh38]
Chr14:105239376 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1176T>C (p.Leu392=) single nucleotide variant Cowden syndrome 6 [RCV001432748]|Inborn genetic diseases [RCV002329480] Chr14:104772449 [GRCh38]
Chr14:105238786 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.747G>T (p.Arg249=) single nucleotide variant Cowden syndrome 6 [RCV001441214] Chr14:104773536 [GRCh38]
Chr14:105239873 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.978C>T (p.Tyr326=) single nucleotide variant Cowden syndrome 6 [RCV001440303]|Inborn genetic diseases [RCV002384671] Chr14:104773072 [GRCh38]
Chr14:105239409 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.633+7G>T single nucleotide variant Cowden syndrome 6 [RCV001447735] Chr14:104774931 [GRCh38]
Chr14:105241268 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.634-213A>G single nucleotide variant not provided [RCV001535093] Chr14:104774193 [GRCh38]
Chr14:105240530 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1113G>A (p.Thr371=) single nucleotide variant Cowden syndrome 6 [RCV001448246]|Inborn genetic diseases [RCV002439058] Chr14:104772937 [GRCh38]
Chr14:105239274 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+32G>A single nucleotide variant not provided [RCV001686335] Chr14:104772333 [GRCh38]
Chr14:105238670 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1260+106_1260+110del deletion not provided [RCV001715478] Chr14:104772255..104772259 [GRCh38]
Chr14:105238592..105238596 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1261-10A>C single nucleotide variant Cowden syndrome 6 [RCV001468805] Chr14:104770857 [GRCh38]
Chr14:105237194 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.252C>T (p.Ile84=) single nucleotide variant Cowden syndrome 6 [RCV001506642]|Inborn genetic diseases [RCV002424947] Chr14:104776694 [GRCh38]
Chr14:105243031 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.436-32C>T single nucleotide variant not provided [RCV001674143] Chr14:104775239 [GRCh38]
Chr14:105241576 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.309C>T (p.Ile103=) single nucleotide variant Cowden syndrome 6 [RCV001459097] Chr14:104775778 [GRCh38]
Chr14:105242115 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.175+18C>T single nucleotide variant Cowden syndrome 6 [RCV002073288]|not specified [RCV001700563] Chr14:104780070 [GRCh38]
Chr14:105246407 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1172+69G>C single nucleotide variant not provided [RCV001693607] Chr14:104772809 [GRCh38]
Chr14:105239146 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.288-4G>T single nucleotide variant Cowden syndrome 6 [RCV001478081] Chr14:104775803 [GRCh38]
Chr14:105242140 [GRCh37]
Chr14:14q32.33		 likely benign|conflicting interpretations of pathogenicity
NM_001382430.1(AKT1):c.1083C>T (p.Ile361=) single nucleotide variant Cowden syndrome 6 [RCV001471896]|Inborn genetic diseases [RCV002432320] Chr14:104772967 [GRCh38]
Chr14:105239304 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1149G>A (p.Leu383=) single nucleotide variant Cowden syndrome 6 [RCV001489235]|Inborn genetic diseases [RCV002456868] Chr14:104772901 [GRCh38]
Chr14:105239238 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1080C>T (p.Leu360=) single nucleotide variant Cowden syndrome 6 [RCV001399644]|Inborn genetic diseases [RCV002420892] Chr14:104772970 [GRCh38]
Chr14:105239307 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.552A>G (p.Glu184=) single nucleotide variant Cowden syndrome 6 [RCV001490465] Chr14:104775091 [GRCh38]
Chr14:105241428 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1437G>A (p.Thr479=) single nucleotide variant Cowden syndrome 6 [RCV001458272]|Inborn genetic diseases [RCV002396077] Chr14:104770347 [GRCh38]
Chr14:105236684 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.47-4G>A single nucleotide variant Cowden syndrome 6 [RCV001498555] Chr14:104780220 [GRCh38]
Chr14:105246557 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.561G>A (p.Val187=) single nucleotide variant Cowden syndrome 6 [RCV001460681]|Inborn genetic diseases [RCV002350936] Chr14:104775082 [GRCh38]
Chr14:105241419 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1248G>A (p.Val416=) single nucleotide variant Cowden syndrome 6 [RCV001453389]|Inborn genetic diseases [RCV002396053] Chr14:104772377 [GRCh38]
Chr14:105238714 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.444C>T (p.Asn148=) single nucleotide variant Cowden syndrome 6 [RCV001496594]|Inborn genetic diseases [RCV002329613] Chr14:104775199 [GRCh38]
Chr14:105241536 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1146G>A (p.Gly382=) single nucleotide variant Cowden syndrome 6 [RCV001480676]|Inborn genetic diseases [RCV002342082] Chr14:104772904 [GRCh38]
Chr14:105239241 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.357C>T (p.Asp119=) single nucleotide variant Cowden syndrome 6 [RCV001441320] Chr14:104775730 [GRCh38]
Chr14:105242067 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.43C>A (p.Arg15=) single nucleotide variant Cowden syndrome 6 [RCV001494531] Chr14:104792601 [GRCh38]
Chr14:105258938 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1419C>G (p.Ser473=) single nucleotide variant Cowden syndrome 6 [RCV001495006]|Inborn genetic diseases [RCV002388526] Chr14:104770365 [GRCh38]
Chr14:105236702 [GRCh37]
Chr14:14q32.33		 likely benign
NC_000014.8:g.(?_103336539)_(105861009_?)dup duplication not provided [RCV002239722] Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33		 uncertain significance
NM_001382430.1(AKT1):c.568-16C>T single nucleotide variant Cowden syndrome 6 [RCV003108628] Chr14:104775019 [GRCh38]
Chr14:105241356 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.808G>A (p.Val270Met) single nucleotide variant Inborn genetic diseases [RCV003221253] Chr14:104773475 [GRCh38]
Chr14:105239812 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1173-89C>T single nucleotide variant not provided [RCV001776676] Chr14:104772541 [GRCh38]
Chr14:105238878 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.985G>A (p.Ala329Thr) single nucleotide variant Cowden syndrome 6 [RCV001874962] Chr14:104773065 [GRCh38]
Chr14:105239402 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.515C>T (p.Thr172Ile) single nucleotide variant Cowden syndrome 6 [RCV002024871] Chr14:104775128 [GRCh38]
Chr14:105241465 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1189G>A (p.Glu397Lys) single nucleotide variant Cowden syndrome 6 [RCV001927750] Chr14:104772436 [GRCh38]
Chr14:105238773 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1243C>T (p.His415Tyr) single nucleotide variant Cowden syndrome 6 [RCV001969832] Chr14:104772382 [GRCh38]
Chr14:105238719 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.253G>A (p.Glu85Lys) single nucleotide variant Cowden syndrome 6 [RCV001908908] Chr14:104776693 [GRCh38]
Chr14:105243030 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1092G>A (p.Glu364=) single nucleotide variant Cowden syndrome 6 [RCV001947554]|Inborn genetic diseases [RCV003164183] Chr14:104772958 [GRCh38]
Chr14:105239295 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NC_000014.9:g.104775025_104775026insATGCCACCCCGTCCTGTAAAGCAGGGCTGGGTGAG insertion Cowden syndrome 6 [RCV001969395] Chr14:104774999..104775000 [GRCh38]
Chr14:105241336..105241337 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.614C>G (p.Ser205Cys) single nucleotide variant Cowden syndrome 6 [RCV002002022] Chr14:104774957 [GRCh38]
Chr14:105241294 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.226C>T (p.Arg76Cys) single nucleotide variant Cowden syndrome 6 [RCV002002825] Chr14:104776720 [GRCh38]
Chr14:105243057 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.200G>A (p.Arg67Gln) single nucleotide variant Cowden syndrome 6 [RCV001871013] Chr14:104776746 [GRCh38]
Chr14:105243083 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1037G>A (p.Arg346His) single nucleotide variant Cowden syndrome 6 [RCV001934070] Chr14:104773013 [GRCh38]
Chr14:105239350 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1036C>T (p.Arg346Cys) single nucleotide variant Cowden syndrome 6 [RCV001887310] Chr14:104773014 [GRCh38]
Chr14:105239351 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.511G>A (p.Ala171Thr) single nucleotide variant Cowden syndrome 6 [RCV001999102] Chr14:104775132 [GRCh38]
Chr14:105241469 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.361C>T (p.Arg121Trp) single nucleotide variant Cowden syndrome 6 [RCV001898540] Chr14:104775726 [GRCh38]
Chr14:105242063 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_103148212)_(105861009_?)del deletion not provided [RCV002000609] Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_001382430.1(AKT1):c.1009G>A (p.Val337Met) single nucleotide variant Cowden syndrome 6 [RCV002000995] Chr14:104773041 [GRCh38]
Chr14:105239378 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.741G>C (p.Glu247Asp) single nucleotide variant Cowden syndrome 6 [RCV001906337] Chr14:104773542 [GRCh38]
Chr14:105239879 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.343G>A (p.Glu115Lys) single nucleotide variant Cowden syndrome 6 [RCV001943003] Chr14:104775744 [GRCh38]
Chr14:105242081 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.362G>T (p.Arg121Leu) single nucleotide variant Cowden syndrome 6 [RCV001955536]|Inborn genetic diseases [RCV002460175] Chr14:104775725 [GRCh38]
Chr14:105242062 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.746G>A (p.Arg249Gln) single nucleotide variant Cowden syndrome 6 [RCV001916750]|Inborn genetic diseases [RCV002388843] Chr14:104773537 [GRCh38]
Chr14:105239874 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.422C>T (p.Pro141Leu) single nucleotide variant Cowden syndrome 6 [RCV001991557] Chr14:104775665 [GRCh38]
Chr14:105242002 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.818G>A (p.Arg273Gln) single nucleotide variant AKT1-related condition [RCV003956430]|Cowden syndrome 6 [RCV001917262] Chr14:104773465 [GRCh38]
Chr14:105239802 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.493A>G (p.Ile165Val) single nucleotide variant Cowden syndrome 6 [RCV001933269] Chr14:104775150 [GRCh38]
Chr14:105241487 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_001382430.1(AKT1):c.176-5C>G single nucleotide variant Cowden syndrome 6 [RCV001931974] Chr14:104776775 [GRCh38]
Chr14:105243112 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.9:g.104780217dup duplication Cowden syndrome 6 [RCV002049128] Chr14:104780213..104780214 [GRCh38]
Chr14:105246550..105246551 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1338G>T (p.Met446Ile) single nucleotide variant Cowden syndrome 6 [RCV001899979] Chr14:104770770 [GRCh38]
Chr14:105237107 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.257G>A (p.Arg86His) single nucleotide variant Cowden syndrome 6 [RCV001884797] Chr14:104776689 [GRCh38]
Chr14:105243026 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.340GAG[5] (p.Glu117dup) microsatellite Cowden syndrome 6 [RCV001918695] Chr14:104775735..104775736 [GRCh38]
Chr14:105242072..105242073 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1166A>C (p.Lys389Thr) single nucleotide variant Cowden syndrome 6 [RCV001903640] Chr14:104772884 [GRCh38]
Chr14:105239221 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.544AAG[1] (p.Lys183del) microsatellite Cowden syndrome 6 [RCV001922155] Chr14:104775094..104775096 [GRCh38]
Chr14:105241431..105241433 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.328C>T (p.Leu110Phe) single nucleotide variant Cowden syndrome 6 [RCV002017304]|Inborn genetic diseases [RCV002324471] Chr14:104775759 [GRCh38]
Chr14:105242096 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.817C>T (p.Arg273Trp) single nucleotide variant Cowden syndrome 6 [RCV001959429] Chr14:104773466 [GRCh38]
Chr14:105239803 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.734T>G (p.Phe245Cys) single nucleotide variant Cowden syndrome 6 [RCV001960365] Chr14:104773549 [GRCh38]
Chr14:105239886 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.287+17G>A single nucleotide variant Cowden syndrome 6 [RCV001997449] Chr14:104776642 [GRCh38]
Chr14:105242979 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.1245C>G (p.His415Gln) single nucleotide variant Cowden syndrome 6 [RCV001916189]|Inborn genetic diseases [RCV002388823] Chr14:104772380 [GRCh38]
Chr14:105238717 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.47-12G>A single nucleotide variant Cowden syndrome 6 [RCV002187578] Chr14:104780228 [GRCh38]
Chr14:105246565 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.633+15A>G single nucleotide variant Cowden syndrome 6 [RCV002148716] Chr14:104774923 [GRCh38]
Chr14:105241260 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.957+18G>A single nucleotide variant Cowden syndrome 6 [RCV002192433] Chr14:104773233 [GRCh38]
Chr14:105239570 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.942G>A (p.Glu314=) single nucleotide variant Cowden syndrome 6 [RCV002125648] Chr14:104773266 [GRCh38]
Chr14:105239603 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.165C>T (p.Phe55=) single nucleotide variant Cowden syndrome 6 [RCV002073452] Chr14:104780098 [GRCh38]
Chr14:105246435 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.47-4G>C single nucleotide variant AKT1-related condition [RCV003933371]|Cowden syndrome 6 [RCV002075605] Chr14:104780220 [GRCh38]
Chr14:105246557 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1261-20C>T single nucleotide variant Cowden syndrome 6 [RCV002185701] Chr14:104770867 [GRCh38]
Chr14:105237204 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1206C>T (p.Ile402=) single nucleotide variant Cowden syndrome 6 [RCV002189145]|Inborn genetic diseases [RCV002346548] Chr14:104772419 [GRCh38]
Chr14:105238756 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.829-9T>C single nucleotide variant Cowden syndrome 6 [RCV002148859] Chr14:104773388 [GRCh38]
Chr14:105239725 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.318G>C (p.Val106=) single nucleotide variant Cowden syndrome 6 [RCV002128924]|Inborn genetic diseases [RCV003161621] Chr14:104775769 [GRCh38]
Chr14:105242106 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1363+12C>T single nucleotide variant Cowden syndrome 6 [RCV002124628] Chr14:104770733 [GRCh38]
Chr14:105237070 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.957+17C>T single nucleotide variant Cowden syndrome 6 [RCV002208854] Chr14:104773234 [GRCh38]
Chr14:105239571 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.958-7C>G single nucleotide variant Cowden syndrome 6 [RCV002210142] Chr14:104773099 [GRCh38]
Chr14:105239436 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.435+17C>T single nucleotide variant Cowden syndrome 6 [RCV002111306] Chr14:104775635 [GRCh38]
Chr14:105241972 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.175+16G>C single nucleotide variant Cowden syndrome 6 [RCV002206793] Chr14:104780072 [GRCh38]
Chr14:105246409 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.351G>A (p.Glu117=) single nucleotide variant Cowden syndrome 6 [RCV002111823]|Inborn genetic diseases [RCV002454448] Chr14:104775736 [GRCh38]
Chr14:105242073 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.703-12C>T single nucleotide variant Cowden syndrome 6 [RCV002076697] Chr14:104773592 [GRCh38]
Chr14:105239929 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.702+18G>A single nucleotide variant Cowden syndrome 6 [RCV002104385] Chr14:104773894 [GRCh38]
Chr14:105240231 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.435+10G>T single nucleotide variant Cowden syndrome 6 [RCV002150732] Chr14:104775642 [GRCh38]
Chr14:105241979 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1172+7G>A single nucleotide variant Cowden syndrome 6 [RCV002077968] Chr14:104772871 [GRCh38]
Chr14:105239208 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.176-23_176-17del deletion Cowden syndrome 6 [RCV002092835] Chr14:104776787..104776793 [GRCh38]
Chr14:105243124..105243130 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.47-13C>T single nucleotide variant Cowden syndrome 6 [RCV002095177] Chr14:104780229 [GRCh38]
Chr14:105246566 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1261-19C>T single nucleotide variant Cowden syndrome 6 [RCV002095250] Chr14:104770866 [GRCh38]
Chr14:105237203 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.468G>A (p.Leu156=) single nucleotide variant Cowden syndrome 6 [RCV002148582] Chr14:104775175 [GRCh38]
Chr14:105241512 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.957+15T>C single nucleotide variant Cowden syndrome 6 [RCV002151671] Chr14:104773236 [GRCh38]
Chr14:105239573 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1261-18G>A single nucleotide variant Cowden syndrome 6 [RCV002113869] Chr14:104770865 [GRCh38]
Chr14:105237202 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.567+12G>A single nucleotide variant Cowden syndrome 6 [RCV002153804] Chr14:104775064 [GRCh38]
Chr14:105241401 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1172+16C>G single nucleotide variant Cowden syndrome 6 [RCV002149673] Chr14:104772862 [GRCh38]
Chr14:105239199 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.47-8G>A single nucleotide variant Cowden syndrome 6 [RCV002115407] Chr14:104780224 [GRCh38]
Chr14:105246561 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.828+11G>A single nucleotide variant Cowden syndrome 6 [RCV002194698] Chr14:104773444 [GRCh38]
Chr14:105239781 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.828+16_828+18delinsTTT indel Cowden syndrome 6 [RCV002107605] Chr14:104773437..104773439 [GRCh38]
Chr14:105239774..105239776 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.702+17C>T single nucleotide variant Cowden syndrome 6 [RCV002213125] Chr14:104773895 [GRCh38]
Chr14:105240232 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+15C>T single nucleotide variant Cowden syndrome 6 [RCV002106752] Chr14:104772350 [GRCh38]
Chr14:105238687 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.568-14_568-11dup duplication Cowden syndrome 6 [RCV002105578] Chr14:104775013..104775014 [GRCh38]
Chr14:105241350..105241351 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1383G>A (p.Val461=) single nucleotide variant Cowden syndrome 6 [RCV002215400] Chr14:104770401 [GRCh38]
Chr14:105236738 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.46+9C>T single nucleotide variant Cowden syndrome 6 [RCV002150095] Chr14:104792589 [GRCh38]
Chr14:105258926 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.46+20G>A single nucleotide variant Cowden syndrome 6 [RCV002211650] Chr14:104792578 [GRCh38]
Chr14:105258915 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.46+16C>T single nucleotide variant Cowden syndrome 6 [RCV002131084] Chr14:104792582 [GRCh38]
Chr14:105258919 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1364-11del deletion Cowden syndrome 6 [RCV002116054] Chr14:104770431 [GRCh38]
Chr14:105236768 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.175+18C>G single nucleotide variant Cowden syndrome 6 [RCV002177115] Chr14:104780070 [GRCh38]
Chr14:105246407 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.633+9dup duplication Cowden syndrome 6 [RCV002153967] Chr14:104774928..104774929 [GRCh38]
Chr14:105241265..105241266 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.634-13C>T single nucleotide variant Cowden syndrome 6 [RCV002201892] Chr14:104773993 [GRCh38]
Chr14:105240330 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.968A>G (p.Asp323Gly) single nucleotide variant Familial cancer of breast [RCV002248964] Chr14:104773082 [GRCh38]
Chr14:105239419 [GRCh37]
Chr14:14q32.33		 likely pathogenic
NM_001382430.1(AKT1):c.46+19G>A single nucleotide variant Cowden syndrome 6 [RCV002217382] Chr14:104792579 [GRCh38]
Chr14:105258916 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.222C>T (p.Ile74=) single nucleotide variant Cowden syndrome 6 [RCV002142206]|Inborn genetic diseases [RCV002427652] Chr14:104776724 [GRCh38]
Chr14:105243061 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1086C>T (p.Leu362=) single nucleotide variant Cowden syndrome 6 [RCV002122460] Chr14:104772964 [GRCh38]
Chr14:105239301 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.129G>A (p.Gln43=) single nucleotide variant Cowden syndrome 6 [RCV002137134] Chr14:104780134 [GRCh38]
Chr14:105246471 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+12C>T single nucleotide variant Cowden syndrome 6 [RCV002197734] Chr14:104772353 [GRCh38]
Chr14:105238690 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.436-18C>A single nucleotide variant Cowden syndrome 6 [RCV002137366] Chr14:104775225 [GRCh38]
Chr14:105241562 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1364-3C>T single nucleotide variant Cowden syndrome 6 [RCV003101349]|not specified [RCV002246925] Chr14:104770423 [GRCh38]
Chr14:105236760 [GRCh37]
Chr14:14q32.33		 benign|uncertain significance
NM_001382430.1(AKT1):c.1245C>T (p.His415=) single nucleotide variant Cowden syndrome 6 [RCV002162137]|Inborn genetic diseases [RCV003375569] Chr14:104772380 [GRCh38]
Chr14:105238717 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+18A>G single nucleotide variant Cowden syndrome 6 [RCV002156893] Chr14:104772347 [GRCh38]
Chr14:105238684 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-14C>T single nucleotide variant Cowden syndrome 6 [RCV002184250] Chr14:104775813 [GRCh38]
Chr14:105242150 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1437G>T (p.Thr479=) single nucleotide variant Cowden syndrome 6 [RCV002182997] Chr14:104770347 [GRCh38]
Chr14:105236684 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.87C>G (p.Leu29=) single nucleotide variant Cowden syndrome 6 [RCV002162401] Chr14:104780176 [GRCh38]
Chr14:105246513 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.567+19G>T single nucleotide variant Cowden syndrome 6 [RCV002180413] Chr14:104775057 [GRCh38]
Chr14:105241394 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.46+11G>A single nucleotide variant Cowden syndrome 6 [RCV002123119] Chr14:104792587 [GRCh38]
Chr14:105258924 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.287+16C>T single nucleotide variant Cowden syndrome 6 [RCV002216664] Chr14:104776643 [GRCh38]
Chr14:105242980 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.47-5T>C single nucleotide variant Cowden syndrome 6 [RCV002141182] Chr14:104780221 [GRCh38]
Chr14:105246558 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.132T>C (p.Asp44=) single nucleotide variant Cowden syndrome 6 [RCV002103923]|Inborn genetic diseases [RCV003307944] Chr14:104780131 [GRCh38]
Chr14:105246468 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+16G>A single nucleotide variant Cowden syndrome 6 [RCV002141735] Chr14:104772349 [GRCh38]
Chr14:105238686 [GRCh37]
Chr14:14q32.33		 likely benign
NC_000014.8:g.(?_105236678)_(105258980_?)dup duplication Cowden syndrome 6 [RCV003116318] Chr14:105236678..105258980 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_105258915)_(105268803_?)dup duplication Cowden syndrome 6 [RCV003116319] Chr14:105258915..105268803 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_105167703)_(105861009_?)del deletion Focal segmental glomerulosclerosis 5 [RCV003111501] Chr14:105167703..105861009 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.287+402_287+403delinsGG indel Lung adenocarcinoma [RCV003129638] Chr14:104776256..104776257 [GRCh38]
Chr14:105242593..105242594 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_001382430.1(AKT1):c.363G>T (p.Arg121=) single nucleotide variant Inborn genetic diseases [RCV002452427] Chr14:104775724 [GRCh38]
Chr14:105242061 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.36G>C (p.Leu12=) single nucleotide variant Inborn genetic diseases [RCV002348915] Chr14:104792608 [GRCh38]
Chr14:105258945 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1154A>G (p.Lys385Arg) single nucleotide variant not provided [RCV002278912] Chr14:104772896 [GRCh38]
Chr14:105239233 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.663C>T (p.Asp221=) single nucleotide variant Inborn genetic diseases [RCV002366784] Chr14:104773951 [GRCh38]
Chr14:105240288 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.703-70A>G single nucleotide variant Hemihypertrophy [RCV002287785] Chr14:104773650 [GRCh38]
Chr14:105239987 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.702+102G>A single nucleotide variant not provided [RCV002286057] Chr14:104773810 [GRCh38]
Chr14:105240147 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.624C>T (p.Pro208=) single nucleotide variant Inborn genetic diseases [RCV002366660] Chr14:104774947 [GRCh38]
Chr14:105241284 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.741G>A (p.Glu247=) single nucleotide variant Inborn genetic diseases [RCV002384981] Chr14:104773542 [GRCh38]
Chr14:105239879 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1322A>G (p.Glu441Gly) single nucleotide variant Inborn genetic diseases [RCV002385713] Chr14:104770786 [GRCh38]
Chr14:105237123 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.711C>T (p.Phe237=) single nucleotide variant Cowden syndrome 6 [RCV003539431]|Inborn genetic diseases [RCV002367437] Chr14:104773572 [GRCh38]
Chr14:105239909 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.510G>A (p.Lys170=) single nucleotide variant Inborn genetic diseases [RCV002351502] Chr14:104775133 [GRCh38]
Chr14:105241470 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.36G>A (p.Leu12=) single nucleotide variant Inborn genetic diseases [RCV002348913] Chr14:104792608 [GRCh38]
Chr14:105258945 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.667C>G (p.Leu223Val) single nucleotide variant Inborn genetic diseases [RCV002367002] Chr14:104773947 [GRCh38]
Chr14:105240284 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1200G>A (p.Lys400=) single nucleotide variant Inborn genetic diseases [RCV002349530] Chr14:104772425 [GRCh38]
Chr14:105238762 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
NM_001382430.1(AKT1):c.546G>A (p.Lys182=) single nucleotide variant Inborn genetic diseases [RCV002349781] Chr14:104775097 [GRCh38]
Chr14:105241434 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.260C>T (p.Thr87Ile) single nucleotide variant Inborn genetic diseases [RCV002437168] Chr14:104776686 [GRCh38]
Chr14:105243023 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.979G>C (p.Gly327Arg) single nucleotide variant Inborn genetic diseases [RCV002387219] Chr14:104773071 [GRCh38]
Chr14:105239408 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.708C>T (p.Phe236=) single nucleotide variant Inborn genetic diseases [RCV002367268] Chr14:104773575 [GRCh38]
Chr14:105239912 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.549G>A (p.Lys183=) single nucleotide variant Inborn genetic diseases [RCV002351606] Chr14:104775094 [GRCh38]
Chr14:105241431 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.495C>A (p.Ile165=) single nucleotide variant Inborn genetic diseases [RCV002351324] Chr14:104775148 [GRCh38]
Chr14:105241485 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.979G>A (p.Gly327Ser) single nucleotide variant Cowden syndrome 6 [RCV003094874]|Inborn genetic diseases [RCV002387216] Chr14:104773071 [GRCh38]
Chr14:105239408 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1311T>C (p.Tyr437=) single nucleotide variant Cowden syndrome 6 [RCV003094953]|Inborn genetic diseases [RCV002385465] Chr14:104770797 [GRCh38]
Chr14:105237134 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1281C>T (p.Pro427=) single nucleotide variant Cowden syndrome 6 [RCV003539439]|Inborn genetic diseases [RCV002387097] Chr14:104770827 [GRCh38]
Chr14:105237164 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.975C>G (p.Asp325Glu) single nucleotide variant Inborn genetic diseases [RCV002387113] Chr14:104773075 [GRCh38]
Chr14:105239412 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.111C>A (p.Gly37=) single nucleotide variant Inborn genetic diseases [RCV002437810] Chr14:104780152 [GRCh38]
Chr14:105246489 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.54C>T (p.Tyr18=) single nucleotide variant Inborn genetic diseases [RCV002351637] Chr14:104780209 [GRCh38]
Chr14:105246546 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1146G>C (p.Gly382=) single nucleotide variant Inborn genetic diseases [RCV002454935] Chr14:104772904 [GRCh38]
Chr14:105239241 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.80T>C (p.Phe27Ser) single nucleotide variant Inborn genetic diseases [RCV002419489] Chr14:104780183 [GRCh38]
Chr14:105246520 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.989T>G (p.Val330Gly) single nucleotide variant Inborn genetic diseases [RCV002387437] Chr14:104773061 [GRCh38]
Chr14:105239398 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.195G>C (p.Thr65=) single nucleotide variant Cowden syndrome 6 [RCV003100964]|Inborn genetic diseases [RCV002421710] Chr14:104776751 [GRCh38]
Chr14:105243088 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.363G>A (p.Arg121=) single nucleotide variant Inborn genetic diseases [RCV002452421] Chr14:104775724 [GRCh38]
Chr14:105242061 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.540C>T (p.Ile180=) single nucleotide variant Inborn genetic diseases [RCV002349412] Chr14:104775103 [GRCh38]
Chr14:105241440 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1221C>T (p.Phe407=) single nucleotide variant Inborn genetic diseases [RCV002369143] Chr14:104772404 [GRCh38]
Chr14:105238741 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.672C>T (p.Cys224=) single nucleotide variant Inborn genetic diseases [RCV002369158] Chr14:104773942 [GRCh38]
Chr14:105240279 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.593A>G (p.Glu198Gly) single nucleotide variant Inborn genetic diseases [RCV003283417] Chr14:104774978 [GRCh38]
Chr14:105241315 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.-257-87C>T single nucleotide variant Squamous cell carcinoma [RCV003129721] Chr14:104793391 [GRCh38]
Chr14:105259728 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.633+300T>C single nucleotide variant Squamous cell carcinoma [RCV003129653] Chr14:104774638 [GRCh38]
Chr14:105240975 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.176-3C>T single nucleotide variant Cowden syndrome 6 [RCV003012070] Chr14:104776773 [GRCh38]
Chr14:105243110 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.456C>T (p.Tyr152=) single nucleotide variant Inborn genetic diseases [RCV002342113] Chr14:104775187 [GRCh38]
Chr14:105241524 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.573G>A (p.Glu191=) single nucleotide variant Inborn genetic diseases [RCV002347776] Chr14:104774998 [GRCh38]
Chr14:105241335 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.790C>T (p.Leu264=) single nucleotide variant Inborn genetic diseases [RCV002416680] Chr14:104773493 [GRCh38]
Chr14:105239830 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.792G>A (p.Leu264=) single nucleotide variant Inborn genetic diseases [RCV002416782] Chr14:104773491 [GRCh38]
Chr14:105239828 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.218T>G (p.Phe73Cys) single nucleotide variant Inborn genetic diseases [RCV002417961] Chr14:104776728 [GRCh38]
Chr14:105243065 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.560T>G (p.Val187Gly) single nucleotide variant Inborn genetic diseases [RCV002344960] Chr14:104775083 [GRCh38]
Chr14:105241420 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.37C>T (p.His13Tyr) single nucleotide variant Inborn genetic diseases [RCV002363954] Chr14:104792607 [GRCh38]
Chr14:105258944 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.762C>T (p.Gly254=) single nucleotide variant Inborn genetic diseases [RCV002396300] Chr14:104773521 [GRCh38]
Chr14:105239858 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.126G>T (p.Pro42=) single nucleotide variant Cowden syndrome 6 [RCV003655375]|Inborn genetic diseases [RCV002449870] Chr14:104780137 [GRCh38]
Chr14:105246474 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1387A>G (p.Ser463Gly) single nucleotide variant Cowden syndrome 6 [RCV003655380]|Inborn genetic diseases [RCV002396563] Chr14:104770397 [GRCh38]
Chr14:105236734 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1420T>C (p.Tyr474His) single nucleotide variant not provided [RCV003234332] Chr14:104770364 [GRCh38]
Chr14:105236701 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.254A>C (p.Glu85Ala) single nucleotide variant Inborn genetic diseases [RCV002433286] Chr14:104776692 [GRCh38]
Chr14:105243029 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.723G>C (p.Arg241=) single nucleotide variant Inborn genetic diseases [RCV002371056] Chr14:104773560 [GRCh38]
Chr14:105239897 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.405G>A (p.Glu135=) single nucleotide variant Inborn genetic diseases [RCV002321385] Chr14:104775682 [GRCh38]
Chr14:105242019 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.642G>A (p.Lys214=) single nucleotide variant Inborn genetic diseases [RCV002361727] Chr14:104773972 [GRCh38]
Chr14:105240309 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.292G>A (p.Glu98Lys) single nucleotide variant Inborn genetic diseases [RCV002440049] Chr14:104775795 [GRCh38]
Chr14:105242132 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.924C>T (p.Thr308=) single nucleotide variant Inborn genetic diseases [RCV002371373] Chr14:104773284 [GRCh38]
Chr14:105239621 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1246G>A (p.Val416Met) single nucleotide variant Inborn genetic diseases [RCV002394163] Chr14:104772379 [GRCh38]
Chr14:105238716 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.858G>T (p.Gly286=) single nucleotide variant Inborn genetic diseases [RCV002447931] Chr14:104773350 [GRCh38]
Chr14:105239687 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.172G>T (p.Ala58Ser) single nucleotide variant Inborn genetic diseases [RCV002407410] Chr14:104780091 [GRCh38]
Chr14:105246428 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.160A>G (p.Asn54Asp) single nucleotide variant Inborn genetic diseases [RCV002400894] Chr14:104780103 [GRCh38]
Chr14:105246440 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1108C>A (p.Arg370Ser) single nucleotide variant Cowden syndrome 6 [RCV003102063]|Inborn genetic diseases [RCV002428654] Chr14:104772942 [GRCh38]
Chr14:105239279 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1366G>A (p.Asp456Asn) single nucleotide variant Inborn genetic diseases [RCV002383598] Chr14:104770418 [GRCh38]
Chr14:105236755 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.199C>A (p.Arg67=) single nucleotide variant Inborn genetic diseases [RCV002417063] Chr14:104776747 [GRCh38]
Chr14:105243084 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.980G>A (p.Gly327Asp) single nucleotide variant Inborn genetic diseases [RCV002376809] Chr14:104773070 [GRCh38]
Chr14:105239407 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.447G>A (p.Glu149=) single nucleotide variant Inborn genetic diseases [RCV002328551] Chr14:104775196 [GRCh38]
Chr14:105241533 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.579C>T (p.Ala193=) single nucleotide variant Inborn genetic diseases [RCV002359814] Chr14:104774992 [GRCh38]
Chr14:105241329 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.588C>T (p.Leu196=) single nucleotide variant Cowden syndrome 6 [RCV003655370]|Inborn genetic diseases [RCV002353570] Chr14:104774983 [GRCh38]
Chr14:105241320 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.859C>T (p.His287Tyr) single nucleotide variant Inborn genetic diseases [RCV002447955] Chr14:104773349 [GRCh38]
Chr14:105239686 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.171G>A (p.Val57=) single nucleotide variant Cowden syndrome 6 [RCV003774475]|Inborn genetic diseases [RCV002399041] Chr14:104780092 [GRCh38]
Chr14:105246429 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.123G>A (p.Arg41=) single nucleotide variant Inborn genetic diseases [RCV002382567] Chr14:104780140 [GRCh38]
Chr14:105246477 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.67C>A (p.Arg23=) single nucleotide variant Inborn genetic diseases [RCV002369471] Chr14:104780196 [GRCh38]
Chr14:105246533 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.153C>T (p.Pro51=) single nucleotide variant Cowden syndrome 6 [RCV003539447]|Inborn genetic diseases [RCV002403129] Chr14:104780110 [GRCh38]
Chr14:105246447 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1060C>T (p.His354Tyr) single nucleotide variant Inborn genetic diseases [RCV002404206] Chr14:104772990 [GRCh38]
Chr14:105239327 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1217G>T (p.Arg406Leu) single nucleotide variant Inborn genetic diseases [RCV002353773] Chr14:104772408 [GRCh38]
Chr14:105238745 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.729T>C (p.Arg243=) single nucleotide variant Inborn genetic diseases [RCV002382744] Chr14:104773554 [GRCh38]
Chr14:105239891 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.231C>G (p.Cys77Trp) single nucleotide variant Inborn genetic diseases [RCV002448103] Chr14:104776715 [GRCh38]
Chr14:105243052 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1224T>C (p.Phe408=) single nucleotide variant Inborn genetic diseases [RCV002364180] Chr14:104772401 [GRCh38]
Chr14:105238738 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.351G>T (p.Glu117Asp) single nucleotide variant Inborn genetic diseases [RCV002459315] Chr14:104775736 [GRCh38]
Chr14:105242073 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.853G>T (p.Asp285Tyr) single nucleotide variant Inborn genetic diseases [RCV002447818] Chr14:104773355 [GRCh38]
Chr14:105239692 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1249T>G (p.Tyr417Asp) single nucleotide variant Inborn genetic diseases [RCV002400662] Chr14:104772376 [GRCh38]
Chr14:105238713 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1271C>A (p.Pro424His) single nucleotide variant Inborn genetic diseases [RCV002376458] Chr14:104770837 [GRCh38]
Chr14:105237174 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.966G>A (p.Glu322=) single nucleotide variant Inborn genetic diseases [RCV002376539] Chr14:104773084 [GRCh38]
Chr14:105239421 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.780C>T (p.Ala260=) single nucleotide variant Inborn genetic diseases [RCV002409949] Chr14:104773503 [GRCh38]
Chr14:105239840 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1157A>G (p.Lys386Arg) single nucleotide variant Inborn genetic diseases [RCV002355528] Chr14:104772893 [GRCh38]
Chr14:105239230 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1177G>A (p.Gly393Ser) single nucleotide variant Inborn genetic diseases [RCV002339882] Chr14:104772448 [GRCh38]
Chr14:105238785 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1059C>T (p.Asp353=) single nucleotide variant Inborn genetic diseases [RCV002407575] Chr14:104772991 [GRCh38]
Chr14:105239328 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.173C>G (p.Ala58Gly) single nucleotide variant Inborn genetic diseases [RCV002401377] Chr14:104780090 [GRCh38]
Chr14:105246427 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1182G>A (p.Gly394=) single nucleotide variant Inborn genetic diseases [RCV002335343] Chr14:104772443 [GRCh38]
Chr14:105238780 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.246T>C (p.Thr82=) single nucleotide variant Inborn genetic diseases [RCV002455546] Chr14:104776700 [GRCh38]
Chr14:105243037 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1351C>G (p.Pro451Ala) single nucleotide variant Inborn genetic diseases [RCV002387960] Chr14:104770757 [GRCh38]
Chr14:105237094 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.313A>G (p.Thr105Ala) single nucleotide variant Inborn genetic diseases [RCV002320691] Chr14:104775774 [GRCh38]
Chr14:105242111 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.930C>T (p.Cys310=) single nucleotide variant Cowden syndrome 6 [RCV003655378]|Inborn genetic diseases [RCV002371567] Chr14:104773278 [GRCh38]
Chr14:105239615 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.404A>G (p.Glu135Gly) single nucleotide variant Inborn genetic diseases [RCV002321261] Chr14:104775683 [GRCh38]
Chr14:105242020 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1267C>T (p.Pro423Ser) single nucleotide variant Cowden syndrome 6 [RCV003100009]|Inborn genetic diseases [RCV002373481] Chr14:104770841 [GRCh38]
Chr14:105237178 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.420G>A (p.Lys140=) single nucleotide variant Inborn genetic diseases [RCV002327948] Chr14:104775667 [GRCh38]
Chr14:105242004 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1029G>C (p.Met343Ile) single nucleotide variant Inborn genetic diseases [RCV002387881] Chr14:104773021 [GRCh38]
Chr14:105239358 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.579C>G (p.Ala193=) single nucleotide variant Inborn genetic diseases [RCV002359805] Chr14:104774992 [GRCh38]
Chr14:105241329 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1003C>T (p.Leu335=) single nucleotide variant Inborn genetic diseases [RCV002405554] Chr14:104773047 [GRCh38]
Chr14:105239384 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.135G>C (p.Val45=) single nucleotide variant Inborn genetic diseases [RCV002383467] Chr14:104780128 [GRCh38]
Chr14:105246465 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.597C>T (p.Asn199=) single nucleotide variant Inborn genetic diseases [RCV002356129] Chr14:104774974 [GRCh38]
Chr14:105241311 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.752G>A (p.Arg251His) single nucleotide variant Inborn genetic diseases [RCV002393874] Chr14:104773531 [GRCh38]
Chr14:105239868 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1298C>A (p.Thr433Asn) single nucleotide variant Inborn genetic diseases [RCV002380703] Chr14:104770810 [GRCh38]
Chr14:105237147 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1299T>C (p.Thr433=) single nucleotide variant Inborn genetic diseases [RCV002380733] Chr14:104770809 [GRCh38]
Chr14:105237146 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.445G>C (p.Glu149Gln) single nucleotide variant Inborn genetic diseases [RCV002328421] Chr14:104775198 [GRCh38]
Chr14:105241535 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.290A>G (p.Glu97Gly) single nucleotide variant Inborn genetic diseases [RCV002439807] Chr14:104775797 [GRCh38]
Chr14:105242134 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.754T>G (p.Phe252Val) single nucleotide variant Inborn genetic diseases [RCV002393987] Chr14:104773529 [GRCh38]
Chr14:105239866 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.728G>A (p.Arg243His) single nucleotide variant Inborn genetic diseases [RCV002382678] Chr14:104773555 [GRCh38]
Chr14:105239892 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.462G>A (p.Lys154=) single nucleotide variant Inborn genetic diseases [RCV002330400] Chr14:104775181 [GRCh38]
Chr14:105241518 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.909T>A (p.Gly303=) single nucleotide variant Inborn genetic diseases [RCV002378611] Chr14:104773299 [GRCh38]
Chr14:105239636 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.192G>A (p.Lys64=) single nucleotide variant Inborn genetic diseases [RCV002410884] Chr14:104776754 [GRCh38]
Chr14:105243091 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.186G>A (p.Leu62=) single nucleotide variant Cowden syndrome 6 [RCV003774533]|Inborn genetic diseases [RCV002415081] Chr14:104776760 [GRCh38]
Chr14:105243097 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1066A>C (p.Lys356Gln) single nucleotide variant Inborn genetic diseases [RCV002415189] Chr14:104772984 [GRCh38]
Chr14:105239321 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.852G>A (p.Lys284=) single nucleotide variant Inborn genetic diseases [RCV002447803] Chr14:104773356 [GRCh38]
Chr14:105239693 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.756C>T (p.Phe252=) single nucleotide variant Cowden syndrome 6 [RCV003099685]|Inborn genetic diseases [RCV002394078] Chr14:104773527 [GRCh38]
Chr14:105239864 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.24G>A (p.Lys8=) single nucleotide variant Inborn genetic diseases [RCV002431088] Chr14:104792620 [GRCh38]
Chr14:105258957 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1071T>C (p.Leu357=) single nucleotide variant Inborn genetic diseases [RCV002423594] Chr14:104772979 [GRCh38]
Chr14:105239316 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.84C>T (p.Leu28=) single nucleotide variant Inborn genetic diseases [RCV002447712] Chr14:104780179 [GRCh38]
Chr14:105246516 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1360C>G (p.Gln454Glu) single nucleotide variant Inborn genetic diseases [RCV002383486] Chr14:104770748 [GRCh38]
Chr14:105237085 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1062T>C (p.His354=) single nucleotide variant Inborn genetic diseases [RCV002410422] Chr14:104772988 [GRCh38]
Chr14:105239325 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.684G>C (p.Glu228Asp) single nucleotide variant Inborn genetic diseases [RCV002362110] Chr14:104773930 [GRCh38]
Chr14:105240267 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.249C>T (p.Val83=) single nucleotide variant Inborn genetic diseases [RCV002431046] Chr14:104776697 [GRCh38]
Chr14:105243034 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.789C>T (p.Tyr263=) single nucleotide variant Inborn genetic diseases [RCV002412354] Chr14:104773494 [GRCh38]
Chr14:105239831 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.78C>T (p.Tyr26=) single nucleotide variant Inborn genetic diseases [RCV002412367] Chr14:104780185 [GRCh38]
Chr14:105246522 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.336G>A (p.Lys112=) single nucleotide variant Inborn genetic diseases [RCV002451728] Chr14:104775751 [GRCh38]
Chr14:105242088 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.659A>T (p.His220Leu) single nucleotide variant Inborn genetic diseases [RCV002364555] Chr14:104773955 [GRCh38]
Chr14:105240292 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.620A>T (p.His207Leu) single nucleotide variant Cowden syndrome 6 [RCV002301457] Chr14:104774951 [GRCh38]
Chr14:105241288 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1211A>G (p.Gln404Arg) single nucleotide variant Inborn genetic diseases [RCV002355745] Chr14:104772414 [GRCh38]
Chr14:105238751 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.731T>C (p.Val244Ala) single nucleotide variant Inborn genetic diseases [RCV002380110] Chr14:104773552 [GRCh38]
Chr14:105239889 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1199A>G (p.Lys400Arg) single nucleotide variant Inborn genetic diseases [RCV002344543] Chr14:104772426 [GRCh38]
Chr14:105238763 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.578C>G (p.Ala193Gly) single nucleotide variant Inborn genetic diseases [RCV002359747] Chr14:104774993 [GRCh38]
Chr14:105241330 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.183G>A (p.Gln61=) single nucleotide variant Inborn genetic diseases [RCV002412817] Chr14:104776763 [GRCh38]
Chr14:105243100 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.566A>T (p.Lys189Met) single nucleotide variant Inborn genetic diseases [RCV002347347] Chr14:104775077 [GRCh38]
Chr14:105241414 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.219C>T (p.Phe73=) single nucleotide variant Inborn genetic diseases [RCV002425660] Chr14:104776727 [GRCh38]
Chr14:105243064 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.426G>A (p.Lys142=) single nucleotide variant Inborn genetic diseases [RCV002330021] Chr14:104775661 [GRCh38]
Chr14:105241998 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1052A>G (p.Asn351Ser) single nucleotide variant Cowden syndrome 6 [RCV003100780]|Inborn genetic diseases [RCV002395104] Chr14:104772998 [GRCh38]
Chr14:105239335 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.333G>A (p.Lys111=) single nucleotide variant Cowden syndrome 6 [RCV003099415]|Inborn genetic diseases [RCV002326577] Chr14:104775754 [GRCh38]
Chr14:105242091 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1235T>G (p.Val412Gly) single nucleotide variant Inborn genetic diseases [RCV002364880] Chr14:104772390 [GRCh38]
Chr14:105238727 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.558C>G (p.Ile186Met) single nucleotide variant Inborn genetic diseases [RCV002344799] Chr14:104775085 [GRCh38]
Chr14:105241422 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1425G>A (p.Ser475=) single nucleotide variant AKT1-related condition [RCV003418492]|Cowden syndrome 6 [RCV003095143]|Inborn genetic diseases [RCV002391924] Chr14:104770359 [GRCh38]
Chr14:105236696 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_001382430.1(AKT1):c.1428C>T (p.Ala476=) single nucleotide variant Inborn genetic diseases [RCV002391980] Chr14:104770356 [GRCh38]
Chr14:105236693 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1292C>T (p.Ser431Leu) single nucleotide variant Cowden syndrome 6 [RCV003103633]|Inborn genetic diseases [RCV002380573] Chr14:104770816 [GRCh38]
Chr14:105237153 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.466C>T (p.Leu156=) single nucleotide variant Inborn genetic diseases [RCV002335145] Chr14:104775177 [GRCh38]
Chr14:105241514 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.844C>T (p.Leu282=) single nucleotide variant Cowden syndrome 6 [RCV003655374]|Inborn genetic diseases [RCV002414374] Chr14:104773364 [GRCh38]
Chr14:105239701 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.561G>T (p.Val187=) single nucleotide variant Cowden syndrome 6 [RCV003655368]|Inborn genetic diseases [RCV002345020] Chr14:104775082 [GRCh38]
Chr14:105241419 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.556A>T (p.Ile186Phe) single nucleotide variant Inborn genetic diseases [RCV002352037] Chr14:104775087 [GRCh38]
Chr14:105241424 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.693C>G (p.Asn231Lys) single nucleotide variant Inborn genetic diseases [RCV002378135] Chr14:104773921 [GRCh38]
Chr14:105240258 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1344C>T (p.Thr448=) single nucleotide variant Inborn genetic diseases [RCV002387773] Chr14:104770764 [GRCh38]
Chr14:105237101 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.106A>T (p.Ile36Phe) single nucleotide variant Inborn genetic diseases [RCV002410959] Chr14:104780157 [GRCh38]
Chr14:105246494 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.703C>T (p.Leu235=) single nucleotide variant Inborn genetic diseases [RCV002378277] Chr14:104773580 [GRCh38]
Chr14:105239917 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1077G>A (p.Glu359=) single nucleotide variant Inborn genetic diseases [RCV002422003] Chr14:104772973 [GRCh38]
Chr14:105239310 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.951C>T (p.Ala317=) single nucleotide variant Inborn genetic diseases [RCV002374209] Chr14:104773257 [GRCh38]
Chr14:105239594 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.903G>A (p.Lys301=) single nucleotide variant Inborn genetic diseases [RCV002378472] Chr14:104773305 [GRCh38]
Chr14:105239642 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.180C>T (p.Cys60=) single nucleotide variant Inborn genetic diseases [RCV002410145] Chr14:104776766 [GRCh38]
Chr14:105243103 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1158G>A (p.Lys386=) single nucleotide variant Inborn genetic diseases [RCV002357413] Chr14:104772892 [GRCh38]
Chr14:105239229 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1386C>T (p.Asp462=) single nucleotide variant Cowden syndrome 6 [RCV003774297]|Inborn genetic diseases [RCV002396542] Chr14:104770398 [GRCh38]
Chr14:105236735 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1284G>A (p.Gln428=) single nucleotide variant Cowden syndrome 6 [RCV003539441]|Inborn genetic diseases [RCV002382913] Chr14:104770824 [GRCh38]
Chr14:105237161 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.138C>T (p.Asp46=) single nucleotide variant Inborn genetic diseases [RCV002396644] Chr14:104780125 [GRCh38]
Chr14:105246462 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.717G>C (p.Leu239=) single nucleotide variant Inborn genetic diseases [RCV002370722] Chr14:104773566 [GRCh38]
Chr14:105239903 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.585A>G (p.Thr195=) single nucleotide variant Inborn genetic diseases [RCV002353377] Chr14:104774986 [GRCh38]
Chr14:105241323 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.340GAG[6] (p.Glu117_Met118insGluGlu) microsatellite Cowden syndrome 6 [RCV002995603] Chr14:104775735..104775736 [GRCh38]
Chr14:105242072..105242073 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.17T>C (p.Ile6Thr) single nucleotide variant Cowden syndrome 6 [RCV002908309] Chr14:104792627 [GRCh38]
Chr14:105258964 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1260+7C>G single nucleotide variant Cowden syndrome 6 [RCV003017651] Chr14:104772358 [GRCh38]
Chr14:105238695 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.230G>T (p.Cys77Phe) single nucleotide variant Cowden syndrome 6 [RCV002947578] Chr14:104776716 [GRCh38]
Chr14:105243053 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1364-9C>T single nucleotide variant Cowden syndrome 6 [RCV002614780] Chr14:104770429 [GRCh38]
Chr14:105236766 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1364-10A>C single nucleotide variant Cowden syndrome 6 [RCV002947777] Chr14:104770430 [GRCh38]
Chr14:105236767 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-1G>C single nucleotide variant Cowden syndrome 6 [RCV003033550] Chr14:104775800 [GRCh38]
Chr14:105242137 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.314C>G (p.Thr105Ser) single nucleotide variant Cowden syndrome 6 [RCV002750981] Chr14:104775773 [GRCh38]
Chr14:105242110 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.27G>A (p.Glu9=) single nucleotide variant Cowden syndrome 6 [RCV002995057] Chr14:104792617 [GRCh38]
Chr14:105258954 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.634-15T>C single nucleotide variant Cowden syndrome 6 [RCV003075345] Chr14:104773995 [GRCh38]
Chr14:105240332 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.702+5G>A single nucleotide variant Cowden syndrome 6 [RCV002731467] Chr14:104773907 [GRCh38]
Chr14:105240244 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1173-8G>A single nucleotide variant Cowden syndrome 6 [RCV002995837] Chr14:104772460 [GRCh38]
Chr14:105238797 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1217G>A (p.Arg406His) single nucleotide variant Cowden syndrome 6 [RCV002614890] Chr14:104772408 [GRCh38]
Chr14:105238745 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.176-6C>T single nucleotide variant Inborn genetic diseases [RCV002818451] Chr14:104776776 [GRCh38]
Chr14:105243113 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.957+14C>T single nucleotide variant Cowden syndrome 6 [RCV002970602] Chr14:104773237 [GRCh38]
Chr14:105239574 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.567+20G>T single nucleotide variant Cowden syndrome 6 [RCV002848284] Chr14:104775056 [GRCh38]
Chr14:105241393 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1373T>A (p.Met458Lys) single nucleotide variant Cowden syndrome 6 [RCV002886080]|not provided [RCV003409954] Chr14:104770411 [GRCh38]
Chr14:105236748 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.125C>T (p.Pro42Leu) single nucleotide variant Cowden syndrome 6 [RCV002949467] Chr14:104780138 [GRCh38]
Chr14:105246475 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.135G>A (p.Val45=) single nucleotide variant Cowden syndrome 6 [RCV002889680] Chr14:104780128 [GRCh38]
Chr14:105246465 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.662A>G (p.Asp221Gly) single nucleotide variant Cowden syndrome 6 [RCV002825383] Chr14:104773952 [GRCh38]
Chr14:105240289 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1117G>A (p.Gly373Ser) single nucleotide variant Cowden syndrome 6 [RCV002914061] Chr14:104772933 [GRCh38]
Chr14:105239270 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.92A>G (p.Asn31Ser) single nucleotide variant Cowden syndrome 6 [RCV002637370] Chr14:104780171 [GRCh38]
Chr14:105246508 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1039C>T (p.Leu347=) single nucleotide variant Cowden syndrome 6 [RCV003079031] Chr14:104773011 [GRCh38]
Chr14:105239348 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.760G>A (p.Gly254Ser) single nucleotide variant Cowden syndrome 6 [RCV002820531] Chr14:104773523 [GRCh38]
Chr14:105239860 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1323G>A (p.Glu441=) single nucleotide variant Cowden syndrome 6 [RCV002620397] Chr14:104770785 [GRCh38]
Chr14:105237122 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.828+9G>A single nucleotide variant Cowden syndrome 6 [RCV002662361] Chr14:104773446 [GRCh38]
Chr14:105239783 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1397G>A (p.Arg466Lys) single nucleotide variant Cowden syndrome 6 [RCV003035390] Chr14:104770387 [GRCh38]
Chr14:105236724 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.148G>A (p.Ala50Thr) single nucleotide variant Cowden syndrome 6 [RCV003056618] Chr14:104780115 [GRCh38]
Chr14:105246452 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.958-8C>T single nucleotide variant Cowden syndrome 6 [RCV003043568] Chr14:104773100 [GRCh38]
Chr14:105239437 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.828+13G>A single nucleotide variant Cowden syndrome 6 [RCV002710210] Chr14:104773442 [GRCh38]
Chr14:105239779 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.99C>T (p.Gly33=) single nucleotide variant Cowden syndrome 6 [RCV002891119] Chr14:104780164 [GRCh38]
Chr14:105246501 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.576G>A (p.Val192=) single nucleotide variant Cowden syndrome 6 [RCV002745509] Chr14:104774995 [GRCh38]
Chr14:105241332 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.176-16C>T single nucleotide variant Cowden syndrome 6 [RCV003040197] Chr14:104776786 [GRCh38]
Chr14:105243123 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-28_288-9dup duplication Cowden syndrome 6 [RCV003084092] Chr14:104775807..104775808 [GRCh38]
Chr14:105242144..105242145 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.435+18T>C single nucleotide variant Cowden syndrome 6 [RCV003058878] Chr14:104775634 [GRCh38]
Chr14:105241971 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.622C>G (p.Pro208Ala) single nucleotide variant Cowden syndrome 6 [RCV002928698] Chr14:104774949 [GRCh38]
Chr14:105241286 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.568-16C>G single nucleotide variant Cowden syndrome 6 [RCV002895926] Chr14:104775019 [GRCh38]
Chr14:105241356 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.765T>C (p.Ala255=) single nucleotide variant Cowden syndrome 6 [RCV002601692] Chr14:104773518 [GRCh38]
Chr14:105239855 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.493A>T (p.Ile165Phe) single nucleotide variant Cowden syndrome 6 [RCV002833256] Chr14:104775150 [GRCh38]
Chr14:105241487 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.739G>A (p.Glu247Lys) single nucleotide variant Cowden syndrome 6 [RCV002578765] Chr14:104773544 [GRCh38]
Chr14:105239881 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1395C>G (p.Arg465=) single nucleotide variant Cowden syndrome 6 [RCV002746467]|Inborn genetic diseases [RCV003308254] Chr14:104770389 [GRCh38]
Chr14:105236726 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.383A>T (p.Asn128Ile) single nucleotide variant Cowden syndrome 6 [RCV002578189] Chr14:104775704 [GRCh38]
Chr14:105242041 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1364-11T>C single nucleotide variant Cowden syndrome 6 [RCV003009566] Chr14:104770431 [GRCh38]
Chr14:105236768 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.46+9C>G single nucleotide variant Cowden syndrome 6 [RCV002651115] Chr14:104792589 [GRCh38]
Chr14:105258926 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.141A>T (p.Gln47His) single nucleotide variant Cowden syndrome 6 [RCV002654631] Chr14:104780122 [GRCh38]
Chr14:105246459 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.458T>C (p.Leu153Pro) single nucleotide variant Cowden syndrome 6 [RCV003051599] Chr14:104775185 [GRCh38]
Chr14:105241522 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.416C>T (p.Ala139Val) single nucleotide variant Cowden syndrome 6 [RCV002943386] Chr14:104775671 [GRCh38]
Chr14:105242008 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.433G>A (p.Val145Met) single nucleotide variant Cowden syndrome 6 [RCV003068452] Chr14:104775654 [GRCh38]
Chr14:105241991 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.360C>A (p.Phe120Leu) single nucleotide variant Cowden syndrome 6 [RCV003071327] Chr14:104775727 [GRCh38]
Chr14:105242064 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.141A>G (p.Gln47=) single nucleotide variant Cowden syndrome 6 [RCV002608393]|Inborn genetic diseases [RCV003308171]|not provided [RCV003403864] Chr14:104780122 [GRCh38]
Chr14:105246459 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.567+13C>T single nucleotide variant Cowden syndrome 6 [RCV002633387] Chr14:104775063 [GRCh38]
Chr14:105241400 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.176-19A>G single nucleotide variant Cowden syndrome 6 [RCV002611759] Chr14:104776789 [GRCh38]
Chr14:105243126 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1388G>T (p.Ser463Ile) single nucleotide variant Inborn genetic diseases [RCV003187851] Chr14:104770396 [GRCh38]
Chr14:105236733 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.366G>A (p.Ser122=) single nucleotide variant Inborn genetic diseases [RCV003176441] Chr14:104775721 [GRCh38]
Chr14:105242058 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1350A>C (p.Thr450=) single nucleotide variant Inborn genetic diseases [RCV003221251] Chr14:104770758 [GRCh38]
Chr14:105237095 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.954C>T (p.Pro318=) single nucleotide variant Inborn genetic diseases [RCV003221254] Chr14:104773254 [GRCh38]
Chr14:105239591 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.366G>C (p.Ser122=) single nucleotide variant Inborn genetic diseases [RCV003283415] Chr14:104775721 [GRCh38]
Chr14:105242058 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1377G>A (p.Glu459=) single nucleotide variant Inborn genetic diseases [RCV003187840] Chr14:104770407 [GRCh38]
Chr14:105236744 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.591C>G (p.Thr197=) single nucleotide variant Inborn genetic diseases [RCV003187841] Chr14:104774980 [GRCh38]
Chr14:105241317 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1125G>A (p.Glu375=) single nucleotide variant Inborn genetic diseases [RCV003187842] Chr14:104772925 [GRCh38]
Chr14:105239262 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.742G>A (p.Asp248Asn) single nucleotide variant Inborn genetic diseases [RCV003187843] Chr14:104773541 [GRCh38]
Chr14:105239878 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.63C>T (p.Thr21=) single nucleotide variant Inborn genetic diseases [RCV003187844] Chr14:104780200 [GRCh38]
Chr14:105246537 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.114C>T (p.Tyr38=) single nucleotide variant Inborn genetic diseases [RCV003187845] Chr14:104780149 [GRCh38]
Chr14:105246486 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1299T>G (p.Thr433=) single nucleotide variant Inborn genetic diseases [RCV003187846] Chr14:104770809 [GRCh38]
Chr14:105237146 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1002G>A (p.Gly334=) single nucleotide variant Inborn genetic diseases [RCV003187847] Chr14:104773048 [GRCh38]
Chr14:105239385 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.150T>C (p.Ala50=) single nucleotide variant Inborn genetic diseases [RCV003187848] Chr14:104780113 [GRCh38]
Chr14:105246450 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1252G>C (p.Glu418Gln) single nucleotide variant Inborn genetic diseases [RCV003187849] Chr14:104772373 [GRCh38]
Chr14:105238710 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1254G>A (p.Glu418=) single nucleotide variant Inborn genetic diseases [RCV003187850] Chr14:104772371 [GRCh38]
Chr14:105238708 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.860A>G (p.His287Arg) single nucleotide variant Inborn genetic diseases [RCV003187852] Chr14:104773348 [GRCh38]
Chr14:105239685 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.554T>G (p.Val185Gly) single nucleotide variant Inborn genetic diseases [RCV003187853] Chr14:104775089 [GRCh38]
Chr14:105241426 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1086C>G (p.Leu362=) single nucleotide variant Inborn genetic diseases [RCV003187854] Chr14:104772964 [GRCh38]
Chr14:105239301 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.238T>G (p.Trp80Gly) single nucleotide variant Inborn genetic diseases [RCV003208938] Chr14:104776708 [GRCh38]
Chr14:105243045 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1200G>T (p.Lys400Asn) single nucleotide variant Inborn genetic diseases [RCV003187839] Chr14:104772425 [GRCh38]
Chr14:105238762 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.397G>A (p.Glu133Lys) single nucleotide variant Inborn genetic diseases [RCV003176442] Chr14:104775690 [GRCh38]
Chr14:105242027 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.621C>T (p.His207=) single nucleotide variant Inborn genetic diseases [RCV003221252] Chr14:104774950 [GRCh38]
Chr14:105241287 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.618G>A (p.Arg206=) single nucleotide variant Inborn genetic diseases [RCV003221255] Chr14:104774953 [GRCh38]
Chr14:105241290 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1 copy number loss not provided [RCV003323337] Chr14:103636647..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
NM_001382430.1(AKT1):c.657C>A (p.Thr219=) single nucleotide variant Inborn genetic diseases [RCV003283416] Chr14:104773957 [GRCh38]
Chr14:105240294 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.463C>T (p.Leu155=) single nucleotide variant Inborn genetic diseases [RCV003339226] Chr14:104775180 [GRCh38]
Chr14:105241517 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1396A>G (p.Arg466Gly) single nucleotide variant Inborn genetic diseases [RCV003339228] Chr14:104770388 [GRCh38]
Chr14:105236725 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.885G>A (p.Leu295=) single nucleotide variant Inborn genetic diseases [RCV003344155] Chr14:104773323 [GRCh38]
Chr14:105239660 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.648T>A (p.Ser216=) single nucleotide variant Inborn genetic diseases [RCV003377648] Chr14:104773966 [GRCh38]
Chr14:105240303 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1183G>A (p.Gly395Ser) single nucleotide variant Inborn genetic diseases [RCV003377649] Chr14:104772442 [GRCh38]
Chr14:105238779 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.339G>A (p.Gln113=) single nucleotide variant Inborn genetic diseases [RCV003364989] Chr14:104775748 [GRCh38]
Chr14:105242085 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.334A>C (p.Lys112Gln) single nucleotide variant Inborn genetic diseases [RCV003364970] Chr14:104775753 [GRCh38]
Chr14:105242090 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.634G>C (p.Ala212Pro) single nucleotide variant Inborn genetic diseases [RCV003376758] Chr14:104773980 [GRCh38]
Chr14:105240317 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3 copy number gain not provided [RCV003485055] Chr14:105122914..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
NM_001382430.1(AKT1):c.*6C>T single nucleotide variant not provided [RCV003400665] Chr14:104770335 [GRCh38]
Chr14:105236672 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.596A>C (p.Asn199Thr) single nucleotide variant not provided [RCV003441393] Chr14:104774975 [GRCh38]
Chr14:105241312 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.603C>T (p.Val201=) single nucleotide variant not provided [RCV003411069] Chr14:104774968 [GRCh38]
Chr14:105241305 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+66C>A single nucleotide variant not provided [RCV003400666] Chr14:104772299 [GRCh38]
Chr14:105238636 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.288-20C>T single nucleotide variant Cowden syndrome 6 [RCV003654481] Chr14:104775819 [GRCh38]
Chr14:105242156 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1190A>C (p.Glu397Ala) single nucleotide variant Cowden syndrome 6 [RCV003654499] Chr14:104772435 [GRCh38]
Chr14:105238772 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1261-8C>T single nucleotide variant Cowden syndrome 6 [RCV003879610] Chr14:104770855 [GRCh38]
Chr14:105237192 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.161A>T (p.Asn54Ile) single nucleotide variant Cowden syndrome 6 [RCV003655883] Chr14:104780102 [GRCh38]
Chr14:105246439 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.633+8_633+9dup duplication Cowden syndrome 6 [RCV003654727] Chr14:104774928..104774929 [GRCh38]
Chr14:105241265..105241266 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.435+10G>A single nucleotide variant Cowden syndrome 6 [RCV003654864] Chr14:104775642 [GRCh38]
Chr14:105241979 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.600C>T (p.Arg200=) single nucleotide variant Cowden syndrome 6 [RCV003654811] Chr14:104774971 [GRCh38]
Chr14:105241308 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.634-14C>T single nucleotide variant Cowden syndrome 6 [RCV003654822] Chr14:104773994 [GRCh38]
Chr14:105240331 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.48G>C (p.Gly16=) single nucleotide variant Cowden syndrome 6 [RCV003655480] Chr14:104780215 [GRCh38]
Chr14:105246552 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.176-7C>T single nucleotide variant Cowden syndrome 6 [RCV003655475] Chr14:104776777 [GRCh38]
Chr14:105243114 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1318G>A (p.Glu440Lys) single nucleotide variant Cowden syndrome 6 [RCV003655709] Chr14:104770790 [GRCh38]
Chr14:105237127 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.829-4C>G single nucleotide variant Cowden syndrome 6 [RCV003835235] Chr14:104773383 [GRCh38]
Chr14:105239720 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.288-13T>A single nucleotide variant Cowden syndrome 6 [RCV003655806] Chr14:104775812 [GRCh38]
Chr14:105242149 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.957+13C>T single nucleotide variant Cowden syndrome 6 [RCV003655486] Chr14:104773238 [GRCh38]
Chr14:105239575 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.281A>C (p.Glu94Ala) single nucleotide variant Cowden syndrome 6 [RCV003539630] Chr14:104776665 [GRCh38]
Chr14:105243002 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.957+3G>C single nucleotide variant Cowden syndrome 6 [RCV003654593] Chr14:104773248 [GRCh38]
Chr14:105239585 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.633+16G>C single nucleotide variant Cowden syndrome 6 [RCV003654656] Chr14:104774922 [GRCh38]
Chr14:105241259 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.699C>T (p.Gly233=) single nucleotide variant Cowden syndrome 6 [RCV003539527] Chr14:104773915 [GRCh38]
Chr14:105240252 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.285G>A (p.Glu95=) single nucleotide variant Cowden syndrome 6 [RCV003655990] Chr14:104776661 [GRCh38]
Chr14:105242998 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+19T>C single nucleotide variant Cowden syndrome 6 [RCV003654674] Chr14:104772346 [GRCh38]
Chr14:105238683 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.971A>G (p.Asn324Ser) single nucleotide variant Cowden syndrome 6 [RCV003654728] Chr14:104773079 [GRCh38]
Chr14:105239416 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1123G>A (p.Glu375Lys) single nucleotide variant Cowden syndrome 6 [RCV003654759] Chr14:104772927 [GRCh38]
Chr14:105239264 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1399C>T (p.Pro467Ser) single nucleotide variant Cowden syndrome 6 [RCV003655685] Chr14:104770385 [GRCh38]
Chr14:105236722 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1173-8G>C single nucleotide variant Cowden syndrome 6 [RCV003540050] Chr14:104772460 [GRCh38]
Chr14:105238797 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.287+12G>A single nucleotide variant Cowden syndrome 6 [RCV003540139] Chr14:104776647 [GRCh38]
Chr14:105242984 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.765T>A (p.Ala255=) single nucleotide variant Cowden syndrome 6 [RCV003540229] Chr14:104773518 [GRCh38]
Chr14:105239855 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1020C>G (p.Tyr340Ter) single nucleotide variant Cowden syndrome 6 [RCV003540266] Chr14:104773030 [GRCh38]
Chr14:105239367 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.939T>C (p.Pro313=) single nucleotide variant Cowden syndrome 6 [RCV003540136] Chr14:104773269 [GRCh38]
Chr14:105239606 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.568-20C>T single nucleotide variant Cowden syndrome 6 [RCV003539732] Chr14:104775023 [GRCh38]
Chr14:105241360 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1357G>C (p.Asp453His) single nucleotide variant Cowden syndrome 6 [RCV003540049] Chr14:104770751 [GRCh38]
Chr14:105237088 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.703-11G>A single nucleotide variant Cowden syndrome 6 [RCV003540123] Chr14:104773591 [GRCh38]
Chr14:105239928 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.633+12C>T single nucleotide variant Cowden syndrome 6 [RCV003540206] Chr14:104774926 [GRCh38]
Chr14:105241263 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.633+12C>A single nucleotide variant Cowden syndrome 6 [RCV003540458] Chr14:104774926 [GRCh38]
Chr14:105241263 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.372_377del (p.Pro125_Ser126del) deletion Cowden syndrome 6 [RCV003540389] Chr14:104775710..104775715 [GRCh38]
Chr14:105242047..105242052 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.633+19G>C single nucleotide variant Cowden syndrome 6 [RCV003540457] Chr14:104774919 [GRCh38]
Chr14:105241256 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.433G>C (p.Val145Leu) single nucleotide variant Cowden syndrome 6 [RCV003540462] Chr14:104775654 [GRCh38]
Chr14:105241991 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.286C>T (p.Arg96Trp) single nucleotide variant Cowden syndrome 6 [RCV003540047] Chr14:104776660 [GRCh38]
Chr14:105242997 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.702+5G>T single nucleotide variant Cowden syndrome 6 [RCV003540080] Chr14:104773907 [GRCh38]
Chr14:105240244 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1305C>T (p.Thr435=) single nucleotide variant Cowden syndrome 6 [RCV003540162] Chr14:104770803 [GRCh38]
Chr14:105237140 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.287+14G>A single nucleotide variant Cowden syndrome 6 [RCV003540299] Chr14:104776645 [GRCh38]
Chr14:105242982 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.55A>G (p.Ile19Val) single nucleotide variant Cowden syndrome 6 [RCV003540323] Chr14:104780208 [GRCh38]
Chr14:105246545 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.46+20G>T single nucleotide variant Cowden syndrome 6 [RCV003540381] Chr14:104792578 [GRCh38]
Chr14:105258915 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1173-18C>T single nucleotide variant Cowden syndrome 6 [RCV003540404] Chr14:104772470 [GRCh38]
Chr14:105238807 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1345A>T (p.Ile449Phe) single nucleotide variant Cowden syndrome 6 [RCV003540452] Chr14:104770763 [GRCh38]
Chr14:105237100 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.950C>T (p.Ala317Val) single nucleotide variant not provided [RCV003332585] Chr14:104773258 [GRCh38]
Chr14:105239595 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.634-1G>A single nucleotide variant not provided [RCV003127165] Chr14:104773981 [GRCh38]
Chr14:105240318 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001382430.1(AKT1):c.399G>A (p.Glu133=) single nucleotide variant Cowden syndrome 6 [RCV002084568]|Inborn genetic diseases [RCV002325656] Chr14:104775688 [GRCh38]
Chr14:105242025 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1260+225C>T single nucleotide variant not provided [RCV002292892] Chr14:104772140 [GRCh38]
Chr14:105238477 [GRCh37]
Chr14:14q32.33		 benign
NM_001382430.1(AKT1):c.1353A>G (p.Pro451=) single nucleotide variant Inborn genetic diseases [RCV003339225] Chr14:104770755 [GRCh38]
Chr14:105237092 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.638T>C (p.Leu213Pro) single nucleotide variant Inborn genetic diseases [RCV003339227] Chr14:104773976 [GRCh38]
Chr14:105240313 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.1422C>T (p.Tyr474=) single nucleotide variant Inborn genetic diseases [RCV003339229] Chr14:104770362 [GRCh38]
Chr14:105236699 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1164C>G (p.Pro388=) single nucleotide variant Inborn genetic diseases [RCV003339230] Chr14:104772886 [GRCh38]
Chr14:105239223 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.15T>C (p.Ala5=) single nucleotide variant Inborn genetic diseases [RCV003339231] Chr14:104792629 [GRCh38]
Chr14:105258966 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.375C>A (p.Pro125=) single nucleotide variant Inborn genetic diseases [RCV003339232] Chr14:104775712 [GRCh38]
Chr14:105242049 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.1054C>A (p.Gln352Lys) single nucleotide variant Inborn genetic diseases [RCV003339233] Chr14:104772996 [GRCh38]
Chr14:105239333 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.720C>T (p.Ser240=) single nucleotide variant Inborn genetic diseases [RCV003344156] Chr14:104773563 [GRCh38]
Chr14:105239900 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.720C>G (p.Ser240=) single nucleotide variant Inborn genetic diseases [RCV003344153] Chr14:104773563 [GRCh38]
Chr14:105239900 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001382430.1(AKT1):c.119A>T (p.Glu40Val) single nucleotide variant Inborn genetic diseases [RCV003344154] Chr14:104780144 [GRCh38]
Chr14:105246481 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001382430.1(AKT1):c.527A>G (p.Tyr176Cys) single nucleotide variant Inborn genetic diseases [RCV003344152] Chr14:104775116 [GRCh38]
Chr14:105241453 [GRCh37]
Chr14:14q32.33		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR149hsa-miR-149-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI20623644
MIR149hsa-miR-149-3pOncomiRDBexternal_infoNANA20623644
MIR451Ahsa-miR-451aMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI20816946
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI18649363
MIR143hsa-miR-143-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23104321
MIR143hsa-miR-143-3pOncomiRDBexternal_infoNANA23104321
MIR302Bhsa-miR-302b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23185040
MIR302Chsa-miR-302c-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23185040
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI18649363
MIR302Ahsa-miR-302a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23185040
MIR302Dhsa-miR-302d-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23185040

Predicted Target Of
Summary Value
Count of predictions:7112
Count of miRNA genes:1103
Interacting mature miRNAs:1430
Transcripts:ENST00000349310, ENST00000402615, ENST00000407796, ENST00000544168, ENST00000553506, ENST00000553797, ENST00000554192, ENST00000554581, ENST00000554585, ENST00000554826, ENST00000554848, ENST00000555380, ENST00000555458, ENST00000555528, ENST00000555926, ENST00000556836, ENST00000557494, ENST00000557552
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-AA041305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,235,704 - 105,235,933UniSTSGRCh37
Build 3614104,306,749 - 104,306,978RGDNCBI36
Celera1485,290,778 - 85,291,007RGD
Cytogenetic Map14q32.32UniSTS
HuRef1485,432,635 - 85,432,864UniSTS
GeneMap99-GB4 RH Map14279.78UniSTS
NCBI RH Map141118.3UniSTS
RH101916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,235,847 - 105,235,969UniSTSGRCh37
Build 3614104,306,892 - 104,307,014RGDNCBI36
Celera1485,290,921 - 85,291,043RGD
Cytogenetic Map14q32.32UniSTS
HuRef1485,432,778 - 85,432,900UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
RH69160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,235,912 - 105,236,169UniSTSGRCh37
Build 3614104,306,957 - 104,307,214RGDNCBI36
Celera1485,290,986 - 85,291,243RGD
Cytogenetic Map14q32.32UniSTS
HuRef1485,432,843 - 85,433,100UniSTS
GeneMap99-GB4 RH Map14279.88UniSTS
PMC15397P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,239,611 - 105,239,691UniSTSGRCh37
Build 3614104,310,656 - 104,310,736RGDNCBI36
Celera1485,294,685 - 85,294,765RGD
Cytogenetic Map14q32.32UniSTS
HuRef1485,436,542 - 85,436,622UniSTS
AKT1_41  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,235,664 - 105,236,509UniSTSGRCh37
Build 3614104,306,709 - 104,307,554RGDNCBI36
Celera1485,290,738 - 85,291,583RGD
HuRef1485,432,595 - 85,433,440UniSTS
RH47592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,235,709 - 105,235,864UniSTSGRCh37
Build 3614104,306,754 - 104,306,909RGDNCBI36
Celera1485,290,783 - 85,290,938RGD
Cytogenetic Map14q32.32UniSTS
HuRef1485,432,640 - 85,432,795UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2437 2834 1689 591 1862 432 4351 2110 3558 397 1455 1611 175 1 1204 2782 6 2
Low 2 157 37 33 88 33 6 87 176 22 5 2 6
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A62733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A63232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN414251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC006886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC604553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC604555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC604557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC739425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX512440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF836747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF836748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF836749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF836750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN845747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X61037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000349310   ⟹   ENSP00000270202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,349 - 104,795,751 (-)Ensembl
RefSeq Acc Id: ENST00000402615   ⟹   ENSP00000385326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,352 - 104,794,528 (-)Ensembl
RefSeq Acc Id: ENST00000407796   ⟹   ENSP00000384293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,349 - 104,795,748 (-)Ensembl
RefSeq Acc Id: ENST00000544168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,770,155 - 104,777,678 (-)Ensembl
RefSeq Acc Id: ENST00000553506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,352 - 104,774,680 (-)Ensembl
RefSeq Acc Id: ENST00000553797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,396 - 104,795,044 (-)Ensembl
RefSeq Acc Id: ENST00000554192   ⟹   ENSP00000450681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,972 - 104,795,748 (-)Ensembl
RefSeq Acc Id: ENST00000554581   ⟹   ENSP00000451828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,349 - 104,794,124 (-)Ensembl
RefSeq Acc Id: ENST00000554585   ⟹   ENSP00000481526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,770,193 - 104,795,748 (-)Ensembl
RefSeq Acc Id: ENST00000554826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,396 - 104,795,542 (-)Ensembl
RefSeq Acc Id: ENST00000554848   ⟹   ENSP00000451166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,770,341 - 104,794,191 (-)Ensembl
RefSeq Acc Id: ENST00000555380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,775,140 - 104,786,367 (-)Ensembl
RefSeq Acc Id: ENST00000555458   ⟹   ENSP00000451470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,392 - 104,795,748 (-)Ensembl
RefSeq Acc Id: ENST00000555528   ⟹   ENSP00000450688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,371 - 104,793,700 (-)Ensembl
RefSeq Acc Id: ENST00000555926   ⟹   ENSP00000451824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,776,671 - 104,795,504 (-)Ensembl
RefSeq Acc Id: ENST00000556836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,774,697 - 104,775,360 (-)Ensembl
RefSeq Acc Id: ENST00000557494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,793,157 - 104,795,743 (-)Ensembl
RefSeq Acc Id: ENST00000557552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,352 - 104,778,571 (-)Ensembl
RefSeq Acc Id: ENST00000610370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,397 - 104,795,542 (-)Ensembl
RefSeq Acc Id: ENST00000649815   ⟹   ENSP00000497822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,349 - 104,795,748 (-)Ensembl
RefSeq Acc Id: ENST00000682269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,771,555 - 104,795,743 (-)Ensembl
RefSeq Acc Id: ENST00000683058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,384 - 104,775,963 (-)Ensembl
RefSeq Acc Id: ENST00000683722   ⟹   ENSP00000507879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,371 - 104,794,906 (-)Ensembl
RefSeq Acc Id: ENST00000684058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,769,396 - 104,774,170 (-)Ensembl
RefSeq Acc Id: NM_001014431   ⟹   NP_001014431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,748 (-)NCBI
GRCh3714105,235,686 - 105,262,080 (-)ENTREZGENE
Build 3614104,306,731 - 104,333,125 (-)NCBI Archive
HuRef1485,432,617 - 85,464,212 (-)ENTREZGENE
CHM1_114105,173,739 - 105,200,089 (-)NCBI
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001014432   ⟹   NP_001014432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,748 (-)NCBI
GRCh3714105,235,686 - 105,262,080 (-)ENTREZGENE
Build 3614104,306,731 - 104,333,125 (-)NCBI Archive
HuRef1485,432,617 - 85,464,212 (-)ENTREZGENE
CHM1_114105,173,739 - 105,200,089 (-)NCBI
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382430   ⟹   NP_001369359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,748 (-)NCBI
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382431   ⟹   NP_001369360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,748 (-)NCBI
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382432   ⟹   NP_001369361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,748 (-)NCBI
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382433   ⟹   NP_001369362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,748 (-)NCBI
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005163   ⟹   NP_005154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,793,601 (-)NCBI
GRCh3714105,235,686 - 105,262,080 (-)ENTREZGENE
Build 3614104,306,731 - 104,330,983 (-)NCBI Archive
HuRef1485,432,617 - 85,464,212 (-)ENTREZGENE
CHM1_114105,173,739 - 105,198,016 (-)NCBI
T2T-CHM13v2.01499,012,235 - 99,036,475 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431069   ⟹   XP_047287025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,207 (-)NCBI
RefSeq Acc Id: XM_047431070   ⟹   XP_047287026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,089 (-)NCBI
RefSeq Acc Id: XM_047431071   ⟹   XP_047287027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,090 (-)NCBI
RefSeq Acc Id: XM_047431072   ⟹   XP_047287028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,089 (-)NCBI
RefSeq Acc Id: XM_047431073   ⟹   XP_047287029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,039 (-)NCBI
RefSeq Acc Id: XM_047431074   ⟹   XP_047287030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,748 (-)NCBI
RefSeq Acc Id: XM_047431075   ⟹   XP_047287031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,769,349 - 104,795,748 (-)NCBI
RefSeq Acc Id: XM_054375553   ⟹   XP_054231528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,012,235 - 99,038,082 (-)NCBI
RefSeq Acc Id: XM_054375554   ⟹   XP_054231529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,012,235 - 99,037,964 (-)NCBI
RefSeq Acc Id: XM_054375555   ⟹   XP_054231530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,012,235 - 99,037,964 (-)NCBI
RefSeq Acc Id: XM_054375556   ⟹   XP_054231531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,012,235 - 99,037,964 (-)NCBI
RefSeq Acc Id: XM_054375557   ⟹   XP_054231532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,012,235 - 99,037,914 (-)NCBI
RefSeq Acc Id: XM_054375558   ⟹   XP_054231533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,012,235 - 99,038,624 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001014431 (Get FASTA)   NCBI Sequence Viewer  
  NP_001014432 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369359 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369360 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369362 (Get FASTA)   NCBI Sequence Viewer  
  NP_005154 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287025 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287026 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287027 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287028 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287029 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287030 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287031 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231529 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231530 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231531 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231532 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231533 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36539 (Get FASTA)   NCBI Sequence Viewer  
  AAH00479 (Get FASTA)   NCBI Sequence Viewer  
  AAH01737 (Get FASTA)   NCBI Sequence Viewer  
  AAH84538 (Get FASTA)   NCBI Sequence Viewer  
  ABY87524 (Get FASTA)   NCBI Sequence Viewer  
  AGC09587 (Get FASTA)   NCBI Sequence Viewer  
  AHA61679 (Get FASTA)   NCBI Sequence Viewer  
  AHA61680 (Get FASTA)   NCBI Sequence Viewer  
  AHA61681 (Get FASTA)   NCBI Sequence Viewer  
  AHA61682 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33356 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33357 (Get FASTA)   NCBI Sequence Viewer  
  AMR60723 (Get FASTA)   NCBI Sequence Viewer  
  AMR60724 (Get FASTA)   NCBI Sequence Viewer  
  AMR60725 (Get FASTA)   NCBI Sequence Viewer  
  AMR60726 (Get FASTA)   NCBI Sequence Viewer  
  AMR60727 (Get FASTA)   NCBI Sequence Viewer  
  AMR60728 (Get FASTA)   NCBI Sequence Viewer  
  AMR60729 (Get FASTA)   NCBI Sequence Viewer  
  AMR60730 (Get FASTA)   NCBI Sequence Viewer  
  AMR60731 (Get FASTA)   NCBI Sequence Viewer  
  AMR60732 (Get FASTA)   NCBI Sequence Viewer  
  AMR60733 (Get FASTA)   NCBI Sequence Viewer  
  AMR60734 (Get FASTA)   NCBI Sequence Viewer  
  AMR60735 (Get FASTA)   NCBI Sequence Viewer  
  AMR60736 (Get FASTA)   NCBI Sequence Viewer  
  AMR60737 (Get FASTA)   NCBI Sequence Viewer  
  AMR60738 (Get FASTA)   NCBI Sequence Viewer  
  AMR60739 (Get FASTA)   NCBI Sequence Viewer  
  BAG36922 (Get FASTA)   NCBI Sequence Viewer  
  BAG53786 (Get FASTA)   NCBI Sequence Viewer  
  BAG70056 (Get FASTA)   NCBI Sequence Viewer  
  BAG70181 (Get FASTA)   NCBI Sequence Viewer  
  BAH12997 (Get FASTA)   NCBI Sequence Viewer  
  CAA03677 (Get FASTA)   NCBI Sequence Viewer  
  CAA03712 (Get FASTA)   NCBI Sequence Viewer  
  CAA43372 (Get FASTA)   NCBI Sequence Viewer  
  CDL93491 (Get FASTA)   NCBI Sequence Viewer  
  CEF39425 (Get FASTA)   NCBI Sequence Viewer  
  CEF39426 (Get FASTA)   NCBI Sequence Viewer  
  CEF39427 (Get FASTA)   NCBI Sequence Viewer  
  CEF39431 (Get FASTA)   NCBI Sequence Viewer  
  EAW81881 (Get FASTA)   NCBI Sequence Viewer  
  EAW81882 (Get FASTA)   NCBI Sequence Viewer  
  EAW81883 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000270202
  ENSP00000270202.4
  ENSP00000384293
  ENSP00000384293.2
  ENSP00000385326.2
  ENSP00000450681.3
  ENSP00000450688
  ENSP00000450688.1
  ENSP00000451166
  ENSP00000451166.1
  ENSP00000451470.3
  ENSP00000451828
  ENSP00000451828.1
  ENSP00000481526.2
  ENSP00000497822
  ENSP00000497822.1
  ENSP00000507566.1
  ENSP00000507879.1
GenBank Protein P31749 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001014431   ⟸   NM_001014431
- UniProtKB: B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   P31749 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001014432   ⟸   NM_001014432
- UniProtKB: B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   P31749 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005154   ⟸   NM_005163
- UniProtKB: B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   P31749 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369359   ⟸   NM_001382430
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369362   ⟸   NM_001382433
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369360   ⟸   NM_001382431
- UniProtKB: B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   P31749 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369361   ⟸   NM_001382432
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000451824   ⟸   ENST00000555926
RefSeq Acc Id: ENSP00000450688   ⟸   ENST00000555528
RefSeq Acc Id: ENSP00000451470   ⟸   ENST00000555458
RefSeq Acc Id: ENSP00000497822   ⟸   ENST00000649815
RefSeq Acc Id: ENSP00000270202   ⟸   ENST00000349310
RefSeq Acc Id: ENSP00000385326   ⟸   ENST00000402615
RefSeq Acc Id: ENSP00000384293   ⟸   ENST00000407796
RefSeq Acc Id: ENSP00000481526   ⟸   ENST00000554585
RefSeq Acc Id: ENSP00000451828   ⟸   ENST00000554581
RefSeq Acc Id: ENSP00000451166   ⟸   ENST00000554848
RefSeq Acc Id: ENSP00000450681   ⟸   ENST00000554192
RefSeq Acc Id: ENSP00000507879   ⟸   ENST00000683722
RefSeq Acc Id: XP_047287031   ⟸   XM_047431075
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287030   ⟸   XM_047431074
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287025   ⟸   XM_047431069
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287027   ⟸   XM_047431071
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287028   ⟸   XM_047431072
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287026   ⟸   XM_047431070
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287029   ⟸   XM_047431073
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231533   ⟸   XM_054375558
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231528   ⟸   XM_054375553
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231531   ⟸   XM_054375556
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231530   ⟸   XM_054375555
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231529   ⟸   XM_054375554
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231532   ⟸   XM_054375557
- Peptide Label: isoform X1
- UniProtKB: P31749 (UniProtKB/Swiss-Prot),   B7Z5R1 (UniProtKB/Swiss-Prot),   B2RAM5 (UniProtKB/Swiss-Prot),   Q9BWB6 (UniProtKB/Swiss-Prot),   B0LPE5 (UniProtKB/TrEMBL),   B3KVH4 (UniProtKB/TrEMBL)
Protein Domains
AGC-kinase C-terminal   PH   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31749-F1-model_v2 AlphaFold P31749 1-480 view protein structure

Promoters
RGD ID:6791252
Promoter ID:HG_KWN:20376
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001YPJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,308,181 - 104,310,022 (-)MPROMDB
RGD ID:6791255
Promoter ID:HG_KWN:20377
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_005163,   UC001YPL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,330,031 - 104,331,742 (-)MPROMDB
RGD ID:6791254
Promoter ID:HG_KWN:20378
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC010AXA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,332,091 - 104,332,591 (-)MPROMDB
RGD ID:6791251
Promoter ID:HG_KWN:20379
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001014431,   NM_001014432
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,332,651 - 104,333,362 (-)MPROMDB
RGD ID:7228759
Promoter ID:EPDNEW_H20125
Type:initiation region
Name:AKT1_2
Description:AKT serine/threonine kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20126  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,794,193 - 104,794,253EPDNEW
RGD ID:7228761
Promoter ID:EPDNEW_H20126
Type:initiation region
Name:AKT1_1
Description:AKT serine/threonine kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20125  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,795,711 - 104,795,771EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:391 AgrOrtholog
COSMIC AKT1 COSMIC
Ensembl Genes ENSG00000142208 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000349310 ENTREZGENE
  ENST00000349310.7 UniProtKB/Swiss-Prot
  ENST00000402615.6 UniProtKB/Swiss-Prot
  ENST00000407796 ENTREZGENE
  ENST00000407796.7 UniProtKB/Swiss-Prot
  ENST00000553797.2 UniProtKB/TrEMBL
  ENST00000554192.6 UniProtKB/TrEMBL
  ENST00000554581 ENTREZGENE
  ENST00000554581.5 UniProtKB/Swiss-Prot
  ENST00000554585.6 UniProtKB/TrEMBL
  ENST00000554848 ENTREZGENE
  ENST00000554848.5 UniProtKB/Swiss-Prot
  ENST00000555458.6 UniProtKB/TrEMBL
  ENST00000555528 ENTREZGENE
  ENST00000555528.5 UniProtKB/Swiss-Prot
  ENST00000649815 ENTREZGENE
  ENST00000649815.2 UniProtKB/Swiss-Prot
  ENST00000683722.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142208 GTEx
HGNC ID HGNC:391 ENTREZGENE
Human Proteome Map AKT1 Human Proteome Map
InterPro AGC-kinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Akt1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_PKB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:207 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 207 ENTREZGENE
OMIM 164730 OMIM
PANTHER PH DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  PTHR24351:SF200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBOSOMAL PROTEIN S6 KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TANDEM PH DOMAIN CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB AKT1 RGD, PharmGKB
PROSITE AGC_KINASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TK_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WY56_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3D6_HUMAN UniProtKB/TrEMBL
  A0A142IKA9_HUMAN UniProtKB/TrEMBL
  A0A804HJM6_HUMAN UniProtKB/TrEMBL
  AKT1_HUMAN UniProtKB/Swiss-Prot
  B0LPE5 ENTREZGENE, UniProtKB/TrEMBL
  B2RAM5 ENTREZGENE
  B3KVH4 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5R1 ENTREZGENE
  G3V2I6_HUMAN UniProtKB/TrEMBL
  G3V3X1_HUMAN UniProtKB/TrEMBL
  P31749 ENTREZGENE
  Q9BWB6 ENTREZGENE
  X2CV47_HUMAN UniProtKB/TrEMBL
  X2CVF3_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RAM5 UniProtKB/Swiss-Prot
  B7Z5R1 UniProtKB/Swiss-Prot
  Q9BWB6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 AKT1  AKT serine/threonine kinase 1    v-akt murine thymoma viral oncogene homolog 1  Symbol and/or name change 5135510 APPROVED