PSEN1 (presenilin 1) - Rat Genome Database

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Gene: PSEN1 (presenilin 1) Homo sapiens
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Symbol: PSEN1
Name: presenilin 1
RGD ID: 731724
HGNC Page HGNC:9508
Description: Enables several functions, including ATPase binding activity; PDZ domain binding activity; and aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including amyloid-beta formation; regulation of gene expression; and regulation of phosphate metabolic process. Acts upstream of or within cell-cell adhesion and endoplasmic reticulum calcium ion homeostasis. Located in several cellular components, including aggresome; endoplasmic reticulum; and nucleus. Part of gamma-secretase complex. Is active in dendrite. Implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); and hidradenitis suppurativa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACNINV3; AD3; CMD1U; FAD; familial Alzheimer Disease; presenilin 1 (Alzheimer disease 3); presenilin-1; presenilin-1 isoform I-467; PS-1; PS1; PSNL1; S182
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381473,136,417 - 73,223,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1473,136,418 - 73,223,691 (+)EnsemblGRCh38hg38GRCh38
GRCh371473,603,215 - 73,690,399 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,672,932 - 72,756,862 (+)NCBINCBI36Build 36hg18NCBI36
Build 341472,684,480 - 72,755,750NCBI
Celera1453,666,429 - 53,753,632 (+)NCBICelera
Cytogenetic Map14q24.2NCBI
HuRef1453,768,824 - 53,855,913 (+)NCBIHuRef
CHM1_11473,542,049 - 73,629,540 (+)NCBICHM1_1
T2T-CHM13v2.01467,341,963 - 67,429,152 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-(beta-D-galactosyloxy)-L-lysine  (ISO)
5-azacytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetamide  (ISO)
aconitic acid  (ISO)
ADP  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aminoguanidine  (EXP)
amiodarone  (EXP)
ammonium chloride  (EXP,ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
ATP  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-fructofuranose 1,6-bisphosphate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
citric acid  (ISO)
clothianidin  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cycloheximide  (EXP)
cypermethrin  (ISO)
cyproconazole  (ISO)
D-fructofuranose 1,6-bisphosphate  (ISO)
D-gluconic acid  (ISO)
D-glucopyranose 6-phosphate  (ISO)
D-glucose  (ISO)
DDT  (EXP)
deguelin  (EXP)
dextran sulfate  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diethyldithiocarbamic acid  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
enzalutamide  (EXP)
epoxiconazole  (ISO)
fenofibrate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
fulvestrant  (ISO)
fumaric acid  (ISO)
glucose  (ISO)
glyceraldehyde 3-phosphate  (ISO)
glycerol 1-phosphate  (ISO)
glycidol  (ISO)
glycine  (ISO)
glycine betaine  (ISO)
Goe 6976  (EXP,ISO)
hexadecanoic acid  (ISO)
IMP  (ISO)
inosine  (ISO)
isoflurane  (ISO)
isoniazide  (ISO)
isoprenaline  (ISO)
keto-D-fructose 1,6-bisphosphate  (ISO)
kynurenine  (ISO)
L-arginine  (ISO)
L-cysteine  (ISO)
L-glutamic acid  (ISO)
L-histidine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP,ISO)
linoleic acid  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
malic acid  (ISO)
maneb  (ISO)
melatonin  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylglyoxal  (ISO)
Methysticin  (ISO)
miconazole  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-beta-D-glucosamine  (ISO)
N-acetyl-D-glucosamine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
notoginsenoside R1  (ISO)
O-propanoyl-L-carnitine  (ISO)
ochratoxin A  (ISO)
oleic acid  (ISO)
ornithine  (ISO)
oxaliplatin  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
palmitoleic acid  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phorbol 12,13-dibutanoate  (EXP)
pregabalin  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
S-adenosyl-L-homocysteine  (ISO)
sarin  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
succinic acid  (ISO)
sulindac sulfide  (EXP)
tauroursodeoxycholic acid  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracosapentaenoic acid  (ISO)
titanium dioxide  (ISO)
tolonium chloride  (ISO)
toluene  (ISO)
trenbolone  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
trilostane  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valine  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid precursor protein catabolic process  (IDA,IEA,IGI,IMP,ISO,TAS)
amyloid precursor protein metabolic process  (IDA)
amyloid-beta formation  (IBA,IDA,IEA,IGI,IMP,ISO)
amyloid-beta metabolic process  (IEA,ISO)
apoptotic process  (IEA)
apoptotic signaling pathway  (IEA,ISO)
astrocyte activation  (IGI)
astrocyte activation involved in immune response  (IGI)
autophagosome assembly  (IEA,ISO)
autophagy  (IEA,ISO)
blood vessel development  (IEA,ISO)
brain development  (IEA,ISO)
brain morphogenesis  (IEA,ISO)
Cajal-Retzius cell differentiation  (IEA,ISO)
calcium ion homeostasis  (IBA)
calcium ion transmembrane transport  (IEA)
cell adhesion  (IEA)
cell fate specification  (IEA,ISO)
cell-cell adhesion  (IMP)
cellular response to amyloid-beta  (IGI)
cerebellum development  (IEA,ISO)
cerebral cortex cell migration  (IEA,ISO)
cerebral cortex development  (IEA,ISO)
choline transport  (IEA,ISO)
DNA damage response  (IDA,IEA,ISO)
dorsal/ventral neural tube patterning  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
endoplasmic reticulum calcium ion homeostasis  (IDA,IEA,IGI,IMP)
epithelial cell proliferation  (IEA,ISO)
forebrain development  (IEA,ISO)
gene expression  (IEA,ISO)
heart development  (IEA,ISO)
heart looping  (IEA,ISO)
hematopoietic progenitor cell differentiation  (IEA,ISO)
intracellular calcium ion homeostasis  (IEA,ISO)
intracellular signal transduction  (IEA)
L-glutamate import across plasma membrane  (IEA,ISO)
learning or memory  (IEA,IGI,ISO)
locomotion  (IEA,ISO)
membrane protein ectodomain proteolysis  (IBA,IDA,IEA,ISO)
memory  (IEA,IGI,ISO)
mitochondrial transport  (IEA,ISO)
myeloid dendritic cell differentiation  (IEA,ISO)
myeloid leukocyte differentiation  (IEA,ISO)
negative regulation of apoptotic process  (IDA,IEA,IMP,ISO)
negative regulation of apoptotic signaling pathway  (IEA,ISO)
negative regulation of axonogenesis  (IEA,ISO)
negative regulation of epidermal growth factor-activated receptor activity  (ISO)
negative regulation of gene expression  (IGI)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of protein kinase activity  (ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of transcription by RNA polymerase II  (IEA,IMP)
negative regulation of ubiquitin-dependent protein catabolic process  (IEA)
negative regulation of ubiquitin-protein transferase activity  (ISO)
neural retina development  (IEA,ISO)
neurogenesis  (IEA,ISO)
neuron apoptotic process  (IEA,ISO)
neuron cellular homeostasis  (IEA,ISO)
neuron development  (IEA,ISO)
neuron differentiation  (IEA,ISO)
neuron migration  (IEA,ISO)
neuron projection maintenance  (IGI)
Notch receptor processing  (IDA,IEA,ISO,TAS)
Notch signaling pathway  (IBA,IEA,ISO)
positive regulation of amyloid fibril formation  (IGI)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of coagulation  (IEA,ISO)
positive regulation of dendritic spine development  (IMP)
positive regulation of DNA-templated transcription  (IMP)
positive regulation of gene expression  (IGI)
positive regulation of glycolytic process  (IGI)
positive regulation of L-glutamate import across plasma membrane  (IEA,ISO)
positive regulation of MAP kinase activity  (ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA)
positive regulation of protein import into nucleus  (IMP)
positive regulation of protein kinase activity  (ISO)
positive regulation of protein phosphorylation  (ISO)
positive regulation of receptor recycling  (IEA)
positive regulation of tumor necrosis factor production  (IGI)
post-embryonic development  (IEA,ISO)
protein catabolic process at postsynapse  (IEA)
protein glycosylation  (IEA,ISO)
protein maturation  (IEA,ISO)
protein processing  (IBA,IDA,IEA,IGI,IMP,ISO)
protein transport  (IEA,ISO)
proteolysis  (IEA)
regulation of canonical Wnt signaling pathway  (IEA,ISS)
regulation of epidermal growth factor-activated receptor activity  (ISO)
regulation of gene expression  (IGI)
regulation of neuron projection development  (IMP)
regulation of phosphorylation  (IDA)
regulation of postsynapse organization  (IEA)
regulation of resting membrane potential  (IEA,ISO)
regulation of synaptic plasticity  (IEA,ISO)
regulation of synaptic transmission, glutamatergic  (IEA,ISO)
regulation of synaptic vesicle cycle  (IEA)
response to oxidative stress  (IEA,ISO)
segmentation  (IEA,ISO)
sequestering of calcium ion  (IEA,ISO)
skeletal system morphogenesis  (IEA,ISO)
skin morphogenesis  (IEA)
smooth endoplasmic reticulum calcium ion homeostasis  (IEA,ISO)
somitogenesis  (IEA,ISO)
synapse organization  (IGI)
synaptic vesicle targeting  (IEA,ISO)
T cell activation involved in immune response  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO)
thymus development  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal diminished volition  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal sexual behavior  (IAGP)
Abnormal social behavior  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of mental function  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of vision  (IAGP)
Abulia  (IAGP)
Acne inversa  (IAGP)
Adult onset  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alexia  (IAGP)
Alzheimer disease  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anomic aphasia  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apraxia  (IAGP)
Arrhythmia  (IAGP)
Astrocytosis  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brain atrophy  (IAGP)
Brain neoplasm  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chronic furunculosis  (IAGP)
Collectionism  (IAGP)
Confusion  (IAGP)
Congestive heart failure  (IAGP)
Deficit in grammar  (IAGP)
Dementia  (IAGP)
Deposits immunoreactive to beta-amyloid protein  (IAGP)
Depression  (IAGP)
Dilated cardiomyopathy  (IAGP)
Disinhibition  (IAGP)
Disturbed sensory perception  (IAGP)
Dysarthria  (IAGP)
Dyscalculia  (IAGP)
Dysgraphia  (IAGP)
Dyslexia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Echolalia  (IAGP)
Edema  (IAGP)
EEG with continuous slow activity  (IAGP)
EMG abnormality  (IAGP)
Emotional dearth  (IAGP)
Exertional dyspnea  (IAGP)
Expressive aphasia  (IAGP)
Fasciculations  (IAGP)
Fatigue  (IAGP)
Finger agnosia  (IAGP)
First degree atrioventricular block  (IAGP)
Frontal lobe dementia  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Gliosis  (IAGP)
Hallucinations  (IAGP)
Hyperorality  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Inappropriate behavior  (IAGP)
Inappropriate laughter  (IAGP)
Increased left ventricular end-diastolic volume  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Irritability  (IAGP)
Lack of insight  (IAGP)
Language impairment  (IAGP)
Late young adult onset  (IAGP)
Left bundle branch block  (IAGP)
Left ventricular hypertrophy  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Lewy bodies  (IAGP)
Lipoatrophy  (IAGP)
Loss of speech  (IAGP)
Lower limb hyperreflexia  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Middle age onset  (IAGP)
Motor stereotypy  (IAGP)
Mutism  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neurofibrillary tangles  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Oculomotor apraxia  (IAGP)
Optic ataxia  (IAGP)
Orthopnea  (IAGP)
Parkinsonism  (IAGP)
Perifolliculitis  (IAGP)
Perseverative thought  (IAGP)
Personality changes  (IAGP)
Polyphagia  (IAGP)
Poor speech  (IAGP)
Primitive reflex  (IAGP)
Psychosis  (IAGP)
Rapidly progressive  (IAGP)
Recurrent cutaneous abscess formation  (IAGP)
Restlessness  (IAGP)
Restrictive behavior  (IAGP)
Seizure  (IAGP)
Semantic dementia  (IAGP)
Senile plaques  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced left ventricular ejection fraction  (IAGP)
Spastic paraparesis  (IAGP)
Spastic tetraparesis  (IAGP)
Spoken word recognition deficit  (IAGP)
Sporadic  (IAGP)
Stroke  (IAGP)
Syncope  (IAGP)
Temporal cortical atrophy  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thromboembolic stroke  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Visual agnosia  (IAGP)
Visual hallucination  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Developmental regulation and possible alternative cleavage of presenilin 1 in the rat retina. Bresciani LG, etal., Mol Cell Neurosci 2002 Oct;21(2):239-49.
3. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. Memory deficiency, cerebral amyloid angiopathy, and amyloid-ß plaques in APP+PS1 double transgenic rat model of Alzheimer's disease. Klakotskaia D, etal., PLoS One. 2018 Apr 11;13(4):e0195469. doi: 10.1371/journal.pone.0195469. eCollection 2018.
7. Increased expression of the gamma-secretase components presenilin-1 and nicastrin in activated astrocytes and microglia following traumatic brain injury. Nadler Y, etal., Glia. 2008 Apr;56(5):552-67. doi: 10.1002/glia.20638.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Regulation of notch signaling activity. Schweisguth F, Curr Biol. 2004 Feb 3;14(3):R129-38.
15. Skeletal and CNS defects in Presenilin-1-deficient mice. Shen J, etal., Cell 1997 May 16;89(4):629-39.
16. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Sherrington R, etal., Nature 1995 Jun 29;375(6534):754-60.
17. Selective expression of presenilin 1 in neural progenitor cells rescues the cerebral hemorrhages and cortical lamination defects in presenilin 1-null mutant mice. Wen PH, etal., Development. 2005 Sep;132(17):3873-83. Epub 2005 Aug 3.
Additional References at PubMed
PMID:1303289   PMID:1349467   PMID:1411576   PMID:7550356   PMID:7623584   PMID:7651536   PMID:8125298   PMID:8574969   PMID:8634711   PMID:8634712   PMID:8641442   PMID:8733303  
PMID:8742474   PMID:8755489   PMID:8804415   PMID:8837617   PMID:8875251   PMID:8878479   PMID:8922407   PMID:8931704   PMID:9007311   PMID:9013610   PMID:9052708   PMID:9070286  
PMID:9073509   PMID:9144240   PMID:9172170   PMID:9173929   PMID:9223106   PMID:9223340   PMID:9225696   PMID:9246482   PMID:9298817   PMID:9298903   PMID:9384602   PMID:9436726  
PMID:9437013   PMID:9443865   PMID:9452432   PMID:9485372   PMID:9507958   PMID:9521418   PMID:9521423   PMID:9544835   PMID:9632714   PMID:9689133   PMID:9712537   PMID:9719376  
PMID:9738936   PMID:9771752   PMID:9831473   PMID:9833068   PMID:9851443   PMID:9851450   PMID:9852041   PMID:9915968   PMID:10025789   PMID:10037471   PMID:10069390   PMID:10077672  
PMID:10090481   PMID:10092585   PMID:10200054   PMID:10206644   PMID:10206645   PMID:10208579   PMID:10208590   PMID:10341227   PMID:10366599   PMID:10369872   PMID:10401002   PMID:10439444  
PMID:10441572   PMID:10446169   PMID:10447269   PMID:10508860   PMID:10521466   PMID:10527805   PMID:10533070   PMID:10545183   PMID:10551805   PMID:10587643   PMID:10593990   PMID:10631141  
PMID:10635315   PMID:10801777   PMID:10801983   PMID:10805794   PMID:10811883   PMID:10854253   PMID:10891589   PMID:10899933   PMID:10993067   PMID:10997338   PMID:11027672   PMID:11030797  
PMID:11076969   PMID:11083918   PMID:11094121   PMID:11104755   PMID:11110974   PMID:11129109   PMID:11140838   PMID:11168528   PMID:11193155   PMID:11200686   PMID:11226248   PMID:11389157  
PMID:11436125   PMID:11444983   PMID:11504726   PMID:11518718   PMID:11524469   PMID:11568920   PMID:11710891   PMID:11719200   PMID:11738826   PMID:11744687   PMID:11755019   PMID:11757955  
PMID:11775232   PMID:11799129   PMID:11827452   PMID:11836371   PMID:11847232   PMID:11876645   PMID:11880515   PMID:11891288   PMID:11904448   PMID:11905990   PMID:11912199   PMID:11920851  
PMID:11927360   PMID:11943765   PMID:11953314   PMID:11973477   PMID:11987239   PMID:12048239   PMID:12048259   PMID:12050157   PMID:12056836   PMID:12058025   PMID:12070348   PMID:12111439  
PMID:12112163   PMID:12119298   PMID:12121968   PMID:12147673   PMID:12192622   PMID:12196555   PMID:12198112   PMID:12207970   PMID:12214059   PMID:12218704   PMID:12230303   PMID:12297048  
PMID:12297508   PMID:12354302   PMID:12374741   PMID:12377771   PMID:12413003   PMID:12435726   PMID:12444985   PMID:12460547   PMID:12470641   PMID:12471034   PMID:12477932   PMID:12484344  
PMID:12493737   PMID:12495082   PMID:12508121   PMID:12522139   PMID:12535650   PMID:12551931   PMID:12603837   PMID:12609057   PMID:12629514   PMID:12639958   PMID:12660785   PMID:12668610  
PMID:12679784   PMID:12686406   PMID:12740439   PMID:12742741   PMID:12752408   PMID:12763021   PMID:12787561   PMID:12794186   PMID:12805290   PMID:12817569   PMID:12821663   PMID:12843241  
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PMID:15147205   PMID:15159497   PMID:15192701   PMID:15205973   PMID:15209417   PMID:15210705   PMID:15240571   PMID:15257293   PMID:15272895   PMID:15274632   PMID:15294909   PMID:15308304  
PMID:15322084   PMID:15322109   PMID:15340889   PMID:15341515   PMID:15345747   PMID:15448688   PMID:15469450   PMID:15474363   PMID:15476169   PMID:15480851   PMID:15480879   PMID:15489334  
PMID:15534001   PMID:15534188   PMID:15534260   PMID:15537629   PMID:15549135   PMID:15569674   PMID:15591316   PMID:15622541   PMID:15629423   PMID:15703411   PMID:15721744   PMID:15722417  
PMID:15732120   PMID:15743767   PMID:15764367   PMID:15764596   PMID:15776278   PMID:15843437   PMID:15851849   PMID:15866047   PMID:15890777   PMID:15905180   PMID:15908021   PMID:15917251  
PMID:15936948   PMID:15946688   PMID:15951428   PMID:15975068   PMID:15975090   PMID:16006137   PMID:16007100   PMID:16014629   PMID:16046406   PMID:16116115   PMID:16126725   PMID:16128583  
PMID:16135086   PMID:16139258   PMID:16234243   PMID:16234244   PMID:16267640   PMID:16305624   PMID:16344340   PMID:16344560   PMID:16376112   PMID:16388371   PMID:16401857   PMID:16407539  
PMID:16423463   PMID:16511561   PMID:16569643   PMID:16574645   PMID:16605258   PMID:16620965   PMID:16628450   PMID:16630834   PMID:16641999   PMID:16735229   PMID:16756946   PMID:16813565  
PMID:16814287   PMID:16815845   PMID:16846981   PMID:16897084   PMID:16908988   PMID:16916581   PMID:16938285   PMID:16941492   PMID:16952411   PMID:16959576   PMID:17081983   PMID:17088253  
PMID:17099291   PMID:17108181   PMID:17158800   PMID:17192785   PMID:17207965   PMID:17210196   PMID:17229472   PMID:17259169   PMID:17268504   PMID:17268505   PMID:17309564   PMID:17320044  
PMID:17349981   PMID:17360711   PMID:17366635   PMID:17389597   PMID:17401156   PMID:17405936   PMID:17412506   PMID:17428795   PMID:17431506   PMID:17489097   PMID:17502474   PMID:17507029  
PMID:17553989   PMID:17560791   PMID:17573346   PMID:17588625   PMID:17594345   PMID:17627113   PMID:17630980   PMID:17632280   PMID:17645236   PMID:17718701   PMID:17719017   PMID:17852592  
PMID:17911105   PMID:17942194   PMID:17962197   PMID:17968601   PMID:17986144   PMID:18024701   PMID:18028191   PMID:18090315   PMID:18174159   PMID:18201567   PMID:18239458   PMID:18293935  
PMID:18299393   PMID:18314228   PMID:18317569   PMID:18320103   PMID:18350357   PMID:18376127   PMID:18403054   PMID:18430735   PMID:18437002   PMID:18445230   PMID:18479822   PMID:18525293  
PMID:18579078   PMID:18580586   PMID:18587238   PMID:18591429   PMID:18637955   PMID:18667258   PMID:18667537   PMID:18706205   PMID:18762245   PMID:18790549   PMID:18801744   PMID:18830724  
PMID:18842294   PMID:18957849   PMID:18971484   PMID:18996842   PMID:19001354   PMID:19012753   PMID:19015863   PMID:19017784   PMID:19036728   PMID:19111578   PMID:19114997   PMID:19221408  
PMID:19232479   PMID:19260824   PMID:19272356   PMID:19276550   PMID:19276551   PMID:19292975   PMID:19407341   PMID:19490893   PMID:19650138   PMID:19667325   PMID:19675248   PMID:19682973  
PMID:19710022   PMID:19796846   PMID:19797784   PMID:19833411   PMID:19834068   PMID:19849793   PMID:19853643   PMID:19885829   PMID:19889475   PMID:19889971   PMID:19924286   PMID:20005821  
PMID:20008141   PMID:20008660   PMID:20009122   PMID:20018629   PMID:20034479   PMID:20036849   PMID:20052609   PMID:20106965   PMID:20158511   PMID:20160458   PMID:20164095   PMID:20168091  
PMID:20219685   PMID:20237298   PMID:20299451   PMID:20301340   PMID:20301414   PMID:20301486   PMID:20307581   PMID:20379614   PMID:20388456   PMID:20399254   PMID:20418378   PMID:20445063  
PMID:20445084   PMID:20456003   PMID:20460383   PMID:20481270   PMID:20484632   PMID:20534741   PMID:20541250   PMID:20594621   PMID:20677014   PMID:20696212   PMID:20701429   PMID:20724034  
PMID:20806406   PMID:20811458   PMID:20847418   PMID:20847436   PMID:20858963   PMID:20858974   PMID:20880607   PMID:20929727   PMID:20970889   PMID:21033353   PMID:21115843   PMID:21143716  
PMID:21144619   PMID:21163940   PMID:21238544   PMID:21277951   PMID:21296022   PMID:21297272   PMID:21305049   PMID:21323574   PMID:21422519   PMID:21545304   PMID:21559374   PMID:21621296  
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PMID:24718101   PMID:24737487   PMID:24816373   PMID:24839116   PMID:24880964   PMID:24927704   PMID:24928006   PMID:25034304   PMID:25281826   PMID:25323700   PMID:25352452   PMID:25394380  
PMID:25429133   PMID:25458374   PMID:25471389   PMID:25542424   PMID:25580592   PMID:25595498   PMID:25614624   PMID:25638532   PMID:25673856   PMID:25707991   PMID:25730041   PMID:25737280  
PMID:25741723   PMID:25796185   PMID:25812849   PMID:25883527   PMID:25893612   PMID:25918421   PMID:25959826   PMID:25998117   PMID:26025363   PMID:26094765   PMID:26112421   PMID:26121081  
PMID:26145164   PMID:26159191   PMID:26159201   PMID:26200696   PMID:26214276   PMID:26280335   PMID:26312828   PMID:26337232   PMID:26462451   PMID:26496610   PMID:26549787   PMID:26559975  
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PMID:31217332   PMID:31235344   PMID:31385772   PMID:31386938   PMID:31416668   PMID:31500908   PMID:31522977   PMID:31536960   PMID:31686034   PMID:31697913   PMID:31762188   PMID:31764245  
PMID:31884479   PMID:31914229   PMID:31941156   PMID:31944856   PMID:32004985   PMID:32019393   PMID:32020597   PMID:32046730   PMID:32087291   PMID:32103039   PMID:32296078   PMID:32296183  
PMID:32328830   PMID:32420742   PMID:32468481   PMID:32556937   PMID:32579498   PMID:32581318   PMID:32588886   PMID:32631487   PMID:32814053   PMID:32857763   PMID:32917274   PMID:32925067  
PMID:32935885   PMID:32957903   PMID:32992716   PMID:33060197   PMID:33188256   PMID:33263761   PMID:33274538   PMID:33300068   PMID:33413468   PMID:33440141   PMID:33453282   PMID:33476461  
PMID:33571524   PMID:33648786   PMID:33675003   PMID:33769986   PMID:33789210   PMID:33855944   PMID:33892504   PMID:33918046   PMID:33961781   PMID:33973882   PMID:34024832   PMID:34067945  
PMID:34079125   PMID:34092645   PMID:34102969   PMID:34207526   PMID:34366350   PMID:34366354   PMID:34463747   PMID:34517214   PMID:34522215   PMID:34591612   PMID:34728605   PMID:34776449  
PMID:34781973   PMID:34903141   PMID:34924385   PMID:34946903   PMID:34948057   PMID:34948396   PMID:34987110   PMID:35231845   PMID:35271311   PMID:35365805   PMID:35404271   PMID:35430993  
PMID:35438347   PMID:35458534   PMID:35489321   PMID:35563300   PMID:35850649   PMID:35949106   PMID:36059511   PMID:36215168   PMID:36217304   PMID:36261293   PMID:36538041   PMID:36555832  
PMID:36572121   PMID:36674948   PMID:36788318   PMID:36944398   PMID:36951251   PMID:37291760   PMID:37341843   PMID:37352850   PMID:37553376   PMID:37608393   PMID:37804602   PMID:37864790  
PMID:37958671   PMID:38103630   PMID:38215435   PMID:38227890   PMID:38380882   PMID:38824433   PMID:38851626   PMID:38899694   PMID:38946496   PMID:39072908   PMID:39240956  


Genomics

Comparative Map Data
PSEN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381473,136,417 - 73,223,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1473,136,418 - 73,223,691 (+)EnsemblGRCh38hg38GRCh38
GRCh371473,603,215 - 73,690,399 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,672,932 - 72,756,862 (+)NCBINCBI36Build 36hg18NCBI36
Build 341472,684,480 - 72,755,750NCBI
Celera1453,666,429 - 53,753,632 (+)NCBICelera
Cytogenetic Map14q24.2NCBI
HuRef1453,768,824 - 53,855,913 (+)NCBIHuRef
CHM1_11473,542,049 - 73,629,540 (+)NCBICHM1_1
T2T-CHM13v2.01467,341,963 - 67,429,152 (+)NCBIT2T-CHM13v2.0
Psen1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391283,734,926 - 83,781,869 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1283,734,926 - 83,781,973 (+)EnsemblGRCm39 Ensembl
GRCm381283,688,152 - 83,735,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1283,688,152 - 83,735,199 (+)EnsemblGRCm38mm10GRCm38
MGSCv371285,029,513 - 85,076,149 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361284,578,311 - 84,624,947 (+)NCBIMGSCv36mm8
Celera1285,135,054 - 85,181,689 (+)NCBICelera
Cytogenetic Map12D1NCBI
cM Map1238.84NCBI
Psen1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86109,054,160 - 109,106,191 (+)NCBIGRCr8
mRatBN7.26103,323,052 - 103,375,088 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6103,323,120 - 103,371,650 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6103,495,949 - 103,532,337 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06103,795,166 - 103,831,556 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06103,164,639 - 103,201,021 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06107,169,514 - 107,221,000 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6107,169,528 - 107,216,798 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06118,324,910 - 118,373,090 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46107,737,543 - 107,776,357 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16107,729,188 - 107,781,021 (+)NCBI
Celera6101,163,513 - 101,199,486 (+)NCBICelera
Cytogenetic Map6q31NCBI
Psen1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555232,128,529 - 2,210,737 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555232,128,529 - 2,210,737 (-)NCBIChiLan1.0ChiLan1.0
PSEN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21574,248,985 - 74,330,085 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11473,465,369 - 73,549,888 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01453,718,299 - 53,802,684 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11472,579,024 - 72,663,876 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1472,579,024 - 72,663,876 (+)Ensemblpanpan1.1panPan2
PSEN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1846,495,551 - 46,569,532 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl846,495,624 - 46,569,532 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha846,188,004 - 46,253,311 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0846,719,986 - 46,800,157 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl846,720,051 - 46,800,135 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1846,399,068 - 46,464,638 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0846,414,872 - 46,480,438 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0846,805,794 - 46,871,397 (+)NCBIUU_Cfam_GSD_1.0
Psen1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864029,540,161 - 29,604,355 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364882,464,527 - 2,530,065 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364882,464,623 - 2,528,807 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSEN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl796,478,190 - 96,569,130 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1796,478,179 - 96,567,884 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27102,265,830 - 102,360,301 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap7q12-q26NCBI
PSEN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12450,394,310 - 50,476,521 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2450,405,590 - 50,472,132 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605338,577,780 - 38,659,678 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psen1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473428,200,140 - 28,272,743 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473428,200,358 - 28,272,684 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSEN1
489 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000021.4(PSEN1):c.823G>C (p.Ala275Pro) single nucleotide variant not specified [RCV000518734] Chr14:73198084 [GRCh38]
Chr14:73664792 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.714C>G (p.Ile238Met) single nucleotide variant not provided [RCV000518834] Chr14:73192809 [GRCh38]
Chr14:73659517 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) single nucleotide variant Alzheimer disease 3 [RCV000020085]|Pick disease [RCV000019779]|not provided [RCV000084335] Chr14:73186920 [GRCh38]
Chr14:73653628 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) single nucleotide variant Alzheimer disease 3 [RCV000019780]|not provided [RCV000084580] Chr14:73219192 [GRCh38]
Chr14:73685900 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
PSEN1, 6-BP INS, NT715 insertion Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques [RCV000019781] Chr14:14q24.3 pathogenic
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) single nucleotide variant Alzheimer disease 3 [RCV000019782]|Alzheimer disease 3 [RCV002513126]|not provided [RCV000084379] Chr14:73198094 [GRCh38]
Chr14:73664802 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) single nucleotide variant Alzheimer disease, familial, 3, with spastic paraparesis and apraxia [RCV000019783]|not provided [RCV000084284] Chr14:73170963 [GRCh38]
Chr14:73637671 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
PSEN1, 3-BP DEL deletion Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques [RCV000019784] Chr14:14q24.3 pathogenic
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) single nucleotide variant Alzheimer disease 3 [RCV000019785]|Alzheimer disease 3 [RCV000640606]|not provided [RCV000517533] Chr14:73219177 [GRCh38]
Chr14:73685885 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) single nucleotide variant Alzheimer disease 3 [RCV000877625]|Dilated cardiomyopathy 1U [RCV000019786]|Primary dilated cardiomyopathy [RCV000171844] Chr14:73211811 [GRCh38]
Chr14:73678519 [GRCh37]
Chr14:72748272 [NCBI36]
Chr14:14q24.2		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) single nucleotide variant Alzheimer disease 3 [RCV000019787]|Alzheimer disease 3 [RCV000529477]|not provided [RCV000084281] Chr14:73170945 [GRCh38]
Chr14:73637653 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) single nucleotide variant Alzheimer disease 3 [RCV000019788]|not provided [RCV000084326] Chr14:73186881 [GRCh38]
Chr14:73653589 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg) single nucleotide variant Alzheimer disease 3 [RCV001377214]|Alzheimer disease, familial, 3, with unusual plaques [RCV000019789] Chr14:73192744 [GRCh38]
Chr14:73659452 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) single nucleotide variant Alzheimer disease 3 [RCV000020082]|Alzheimer disease 3 [RCV002514122]|not provided [RCV000084403] Chr14:73217171 [GRCh38]
Chr14:73683879 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) single nucleotide variant Alzheimer disease 3 [RCV000020083]|not provided [RCV000084285] Chr14:73170974 [GRCh38]
Chr14:73637682 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) single nucleotide variant Alzheimer disease 3 [RCV000020086]|Alzheimer disease 3 [RCV000818883]|not provided [RCV000712874] Chr14:73192792 [GRCh38]
Chr14:73659500 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) single nucleotide variant Alzheimer disease 3 [RCV000020087]|not provided [RCV000084364] Chr14:73192862 [GRCh38]
Chr14:73659570 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.869-1624_956-2452del deletion Alzheimer disease 4 [RCV000031856] Chr14:73204758..73209313 [GRCh38]
Chr14:73671466..73676021 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) single nucleotide variant Alzheimer disease 3 [RCV000689465]|Alzheimer disease 4 [RCV000031858]|not provided [RCV000084374] Chr14:73198067 [GRCh38]
Chr14:73664775 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.725del (p.Pro242fs) deletion Acne inversa, familial, 3 [RCV000022446] Chr14:73192818 [GRCh38]
Chr14:73659526 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) single nucleotide variant Alzheimer disease 3 [RCV000019751]|Alzheimer disease 3 [RCV001248367]|not provided [RCV003105774] Chr14:73173663 [GRCh38]
Chr14:73640371 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) single nucleotide variant Alzheimer disease 3 [RCV000019752]|Alzheimer disease 3 [RCV000534810]|Alzheimer disease 3 [RCV002490394]|PSEN1-related disorder [RCV003407347]|not provided [RCV000084318] Chr14:73186860 [GRCh38]
Chr14:73653568 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) single nucleotide variant Alzheimer disease 3 [RCV000019753]|Alzheimer disease 3 [RCV000542870]|not provided [RCV000084361] Chr14:73192832 [GRCh38]
Chr14:73659540 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) single nucleotide variant Alzheimer disease 3 [RCV000019754]|not provided [RCV000084387] Chr14:73198117 [GRCh38]
Chr14:73664825 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) single nucleotide variant Alzheimer disease 3 [RCV000019755]|Alzheimer disease 3 [RCV000640605]|not provided [RCV000084407] Chr14:73217225 [GRCh38]
Chr14:73683933 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) single nucleotide variant Alzheimer disease 3 [RCV000019756]|Alzheimer disease 3 [RCV003764610]|not provided [RCV000084304] Chr14:73173642 [GRCh38]
Chr14:73640350 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.436A>G (p.Met146Val) single nucleotide variant Alzheimer disease 3 [RCV000019757] Chr14:73173663 [GRCh38]
Chr14:73640371 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) single nucleotide variant Alzheimer disease 3 [RCV000019758]|not provided [RCV000084317] Chr14:73186859 [GRCh38]
Chr14:73653567 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) single nucleotide variant Alzheimer disease 3 [RCV000019759]|Alzheimer disease 3 [RCV000701892] Chr14:73198100 [GRCh38]
Chr14:73664808 [GRCh37]
Chr14:14q24.2		 pathogenic|uncertain significance
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) single nucleotide variant Alzheimer disease 3 [RCV000019760]|Alzheimer disease 3 [RCV002513125]|Alzheimer disease, familial, with spastic paraparesis and unusual plaques [RCV000019761]|not provided [RCV000084381] Chr14:73198100 [GRCh38]
Chr14:73664808 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) single nucleotide variant Alzheimer disease 3 [RCV000019762]|not provided [RCV000084371] Chr14:73198060 [GRCh38]
Chr14:73664768 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
PSEN1, IVS8AS, G-T, -1 deletion Alzheimer disease, familial, with spastic paraparesis and unusual plaques [RCV000019764]|Alzheimer disease, type 3 [RCV000019763] Chr14:14q24.3 pathogenic
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) single nucleotide variant Alzheimer disease 3 [RCV000019765]|not provided [RCV000084300] Chr14:73173587 [GRCh38]
Chr14:73640295 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) single nucleotide variant Alzheimer disease 3 [RCV000019766]|Alzheimer disease 3 [RCV000763348]|not provided [RCV000084411] Chr14:73219161 [GRCh38]
Chr14:73685869 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
NM_000021.4(PSEN1):c.438G>A (p.Met146Ile) single nucleotide variant Alzheimer disease 3 [RCV000019767] Chr14:73173665 [GRCh38]
Chr14:73640373 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) single nucleotide variant Alzheimer disease 3 [RCV000019768]|not provided [RCV000084363] Chr14:73192844 [GRCh38]
Chr14:73659552 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr) single nucleotide variant Abnormality of the nervous system [RCV001814004]|Alzheimer disease, familial, with spastic paraparesis and unusual plaques [RCV000019769] Chr14:73198094 [GRCh38]
Chr14:73664802 [GRCh37]
Chr14:14q24.2		 pathogenic
PSEN1, IVS4DS, 1-BP DEL, G deletion Alzheimer disease 3 [RCV000019770] Chr14:14q24.3 pathogenic
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) indel Alzheimer disease 3 [RCV000019771]|not provided [RCV000084588] Chr14:73219185..73219186 [GRCh38]
Chr14:73685893..73685894 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) single nucleotide variant Alzheimer disease 3 [RCV000019772]|not provided [RCV000084286] Chr14:73170984 [GRCh38]
Chr14:73637692 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) single nucleotide variant Alzheimer disease 3 [RCV000019773]|Alzheimer disease 3 [RCV000640609]|Alzheimer disease 3 [RCV002482890]|PSEN1-related disorder [RCV004752714]|not provided [RCV000518563] Chr14:73192712 [GRCh38]
Chr14:73659420 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser) single nucleotide variant Alzheimer disease 3 [RCV003388569]|Alzheimer disease, familial, 3, with spastic paraparesis and apraxia [RCV000019774] Chr14:73198057 [GRCh38]
Chr14:73664765 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) single nucleotide variant Alzheimer disease 3 [RCV000020084]|Alzheimer disease 3 [RCV001228362]|Frontotemporal dementia [RCV000019775]|not provided [RCV000084292] Chr14:73171047 [GRCh38]
Chr14:73637755 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) single nucleotide variant Alzheimer disease 3 [RCV000019776] Chr14:73186869 [GRCh38]
Chr14:73653577 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) single nucleotide variant Alzheimer disease 3 [RCV000019777]|not provided [RCV000084329] Chr14:73186892 [GRCh38]
Chr14:73653600 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) single nucleotide variant Alzheimer disease 3 [RCV000984888]|Alzheimer disease 3 [RCV001204170]|Alzheimer disease 3 [RCV002051789]|Alzheimer disease, familial, 3, with unusual plaques [RCV000019778]|not provided [RCV000084375] Chr14:73198072 [GRCh38]
Chr14:73664780 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.689G>A (p.Ser230Asn) single nucleotide variant not specified [RCV000516980] Chr14:73192784 [GRCh38]
Chr14:73659492 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) single nucleotide variant Alzheimer disease 3 [RCV000625969]|Alzheimer disease 3 [RCV003764803]|Alzheimer disease familial 3, with spastic paraparesis [RCV000106293] Chr14:73217137 [GRCh38]
Chr14:73683845 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3 copy number gain See cases [RCV000052083] Chr14:72886764..73367226 [GRCh38]
Chr14:73353472..73833934 [GRCh37]
Chr14:72423225..72903687 [NCBI36]
Chr14:14q24.2-24.3		 uncertain significance
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) single nucleotide variant Alzheimer disease 3 [RCV000640608]|Alzheimer disease 3 [RCV001120058]|Alzheimer disease [RCV000172094]|Dilated cardiomyopathy 1U [RCV001120057]|not provided [RCV000084280] Chr14:73170813 [GRCh38]
Chr14:73637521 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance|not provided
NM_000021.4(PSEN1):c.244G>C (p.Val82Leu) single nucleotide variant not provided [RCV000084282] Chr14:73170953 [GRCh38]
Chr14:73637661 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.247_252del (p.Ile83_Met84del) deletion not provided [RCV000084283] Chr14:73170954..73170959 [GRCh38]
Chr14:73637662..73637667 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) single nucleotide variant Alzheimer disease 3 [RCV001854471]|PSEN1-related disorder [RCV004752745]|not provided [RCV000084287] Chr14:73170989 [GRCh38]
Chr14:73637697 [GRCh37]
Chr14:14q24.2		 uncertain significance|not provided
NM_000021.4(PSEN1):c.286G>T (p.Val96Phe) single nucleotide variant not provided [RCV000084288] Chr14:73170995 [GRCh38]
Chr14:73637703 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.289G>T (p.Val97Leu) single nucleotide variant not provided [RCV000084289] Chr14:73170998 [GRCh38]
Chr14:73637706 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.313T>A (p.Phe105Ile) single nucleotide variant not provided [RCV000084290] Chr14:73171022 [GRCh38]
Chr14:73637730 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.315T>G (p.Phe105Leu) single nucleotide variant not provided [RCV000084291] Chr14:73171024 [GRCh38]
Chr14:73637732 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.338+1del deletion Alzheimer disease 3 [RCV002271335]|not provided [RCV000084293] Chr14:73171048 [GRCh38]
Chr14:73637756 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.343T>G (p.Tyr115Asp) single nucleotide variant not provided [RCV000084294] Chr14:73173570 [GRCh38]
Chr14:73640278 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) single nucleotide variant Alzheimer disease 3 [RCV000640610]|Alzheimer disease 3 [RCV001199924]|not provided [RCV000084295] Chr14:73173571 [GRCh38]
Chr14:73640279 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) single nucleotide variant Alzheimer disease 3 [RCV002514493]|not provided [RCV000084296] Chr14:73173574 [GRCh38]
Chr14:73640282 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser) single nucleotide variant Alzheimer disease 3 [RCV002514494]|not provided [RCV000084297] Chr14:73173576 [GRCh38]
Chr14:73640284 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu) single nucleotide variant Alzheimer disease 3 [RCV002272062]|not provided [RCV000084298] Chr14:73173577 [GRCh38]
Chr14:73640285 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys) single nucleotide variant not provided [RCV000084299] Chr14:73173585 [GRCh38]
Chr14:73640293 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.367G>A (p.Glu123Lys) single nucleotide variant not provided [RCV000084301] Chr14:73173594 [GRCh38]
Chr14:73640302 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp) single nucleotide variant Alzheimer disease 3 [RCV001854472]|not provided [RCV000084302] Chr14:73173630 [GRCh38]
Chr14:73640338 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) single nucleotide variant Alzheimer disease 3 [RCV000824341]|Alzheimer disease 3 [RCV003387756]|not provided [RCV000084303] Chr14:73173631 [GRCh38]
Chr14:73640339 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
NM_000021.4(PSEN1):c.416T>C (p.Met139Thr) single nucleotide variant Alzheimer disease 3 [RCV001290408]|not provided [RCV000084305] Chr14:73173643 [GRCh38]
Chr14:73640351 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.417G>A (p.Met139Ile) single nucleotide variant not provided [RCV000084306] Chr14:73173644 [GRCh38]
Chr14:73640352 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.427A>T (p.Ile143Phe) single nucleotide variant not provided [RCV000084307] Chr14:73173654 [GRCh38]
Chr14:73640362 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) single nucleotide variant Alzheimer disease 3 [RCV001071503]|Alzheimer disease 3 [RCV003993799]|not provided [RCV000084308] Chr14:73173655 [GRCh38]
Chr14:73640363 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.429T>G (p.Ile143Met) single nucleotide variant not provided [RCV000084309] Chr14:73173656 [GRCh38]
Chr14:73640364 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu) single nucleotide variant Pick disease [RCV002247483]|not provided [RCV000084310] Chr14:73173663 [GRCh38]
Chr14:73640371 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) single nucleotide variant Alzheimer disease 3 [RCV001854473]|not provided [RCV000084311] Chr14:73173665 [GRCh38]
Chr14:73640373 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.440C>T (p.Thr147Ile) single nucleotide variant not provided [RCV000084312] Chr14:73173667 [GRCh38]
Chr14:73640375 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.457C>G (p.Leu153Val) single nucleotide variant not provided [RCV000084313] Chr14:73173684 [GRCh38]
Chr14:73640392 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.460T>A (p.Tyr154Asn) single nucleotide variant not provided [RCV000084314] Chr14:73173687 [GRCh38]
Chr14:73640395 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.461A>G (p.Tyr154Cys) single nucleotide variant not provided [RCV000084315] Chr14:73173688 [GRCh38]
Chr14:73640396 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.466_467insTTATAT (p.Lys155_Tyr156insPheIle) insertion Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques [RCV002271336]|not provided [RCV000084316] Chr14:73173691..73173692 [GRCh38]
Chr14:73640399..73640400 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.493T>G (p.Trp165Gly) single nucleotide variant not provided [RCV000084319] Chr14:73186865 [GRCh38]
Chr14:73653573 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.495G>C (p.Trp165Cys) single nucleotide variant not provided [RCV000084320] Chr14:73186867 [GRCh38]
Chr14:73653575 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.496_498del (p.Leu166del) deletion not provided [RCV000084321] Chr14:73186868..73186870 [GRCh38]
Chr14:73653576..73653578 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.497T>G (p.Leu166Arg) single nucleotide variant not provided [RCV000084322] Chr14:73186869 [GRCh38]
Chr14:73653577 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.498TAT[1] (p.Ile168del) microsatellite not provided [RCV000084323] Chr14:73186869..73186871 [GRCh38]
Chr14:73653577..73653579 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) single nucleotide variant not provided [RCV000084324] Chr14:73186877 [GRCh38]
Chr14:73653585 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu) single nucleotide variant Alzheimer disease 3 [RCV002513897]|not provided [RCV000084325] Chr14:73186878 [GRCh38]
Chr14:73653586 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro) single nucleotide variant Alzheimer disease 3 [RCV002514495]|not provided [RCV000084327] Chr14:73186884 [GRCh38]
Chr14:73653592 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.518T>G (p.Leu173Trp) single nucleotide variant not provided [RCV000084328] Chr14:73186890 [GRCh38]
Chr14:73653598 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.521T>G (p.Leu174Arg) single nucleotide variant not provided [RCV000084330] Chr14:73186893 [GRCh38]
Chr14:73653601 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.524T>C (p.Phe175Ser) single nucleotide variant not provided [RCV000084331] Chr14:73186896 [GRCh38]
Chr14:73653604 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.529T>C (p.Phe177Leu) single nucleotide variant not provided [RCV000084332] Chr14:73186901 [GRCh38]
Chr14:73653609 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser) single nucleotide variant Alzheimer disease 3 [RCV002513898]|not provided [RCV000084333] Chr14:73186902 [GRCh38]
Chr14:73653610 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) single nucleotide variant Alzheimer disease 3 [RCV000640607]|not provided [RCV000084334] Chr14:73186904 [GRCh38]
Chr14:73653612 [GRCh37]
Chr14:14q24.2		 uncertain significance|not provided
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp) single nucleotide variant Alzheimer disease 3 [RCV001857411]|not provided [RCV000084336] Chr14:73192647 [GRCh38]
Chr14:73659355 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.616G>A (p.Gly206Ser) single nucleotide variant not provided [RCV000084337] Chr14:73192711 [GRCh38]
Chr14:73659419 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val) single nucleotide variant not provided [RCV000084338] Chr14:73192712 [GRCh38]
Chr14:73659420 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.625G>A (p.Gly209Arg) single nucleotide variant not provided [RCV000084339] Chr14:73192720 [GRCh38]
Chr14:73659428 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) single nucleotide variant Alzheimer disease 3 [RCV000640604]|not provided [RCV000084340] Chr14:73192721 [GRCh38]
Chr14:73659429 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.637A>T (p.Ile213Phe) single nucleotide variant not provided [RCV000084341] Chr14:73192732 [GRCh38]
Chr14:73659440 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.638T>C (p.Ile213Thr) single nucleotide variant not provided [RCV000084342] Chr14:73192733 [GRCh38]
Chr14:73659441 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.640C>T (p.His214Tyr) single nucleotide variant not provided [RCV000084343] Chr14:73192735 [GRCh38]
Chr14:73659443 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.650G>A (p.Gly217Asp) single nucleotide variant not provided [RCV000084344] Chr14:73192745 [GRCh38]
Chr14:73659453 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.655C>T (p.Leu219Phe) single nucleotide variant not provided [RCV000084345] Chr14:73192750 [GRCh38]
Chr14:73659458 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro) single nucleotide variant Familial Alzheimer disease [RCV002272063]|not provided [RCV000084346] Chr14:73192751 [GRCh38]
Chr14:73659459 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.665A>G (p.Gln222Arg) single nucleotide variant not provided [RCV000084347] Chr14:73192760 [GRCh38]
Chr14:73659468 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.666G>C (p.Gln222His) single nucleotide variant not provided [RCV000084348] Chr14:73192761 [GRCh38]
Chr14:73659469 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.676C>T (p.Leu226Phe) single nucleotide variant not provided [RCV000084349] Chr14:73192771 [GRCh38]
Chr14:73659479 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.677T>G (p.Leu226Arg) single nucleotide variant not provided [RCV000084350] Chr14:73192772 [GRCh38]
Chr14:73659480 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.685A>T (p.Ile229Phe) single nucleotide variant not provided [RCV000084351] Chr14:73192780 [GRCh38]
Chr14:73659488 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) single nucleotide variant Alzheimer disease 3 [RCV000763347]|not provided [RCV000084352] Chr14:73192786 [GRCh38]
Chr14:73659494 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.692C>T (p.Ala231Val) single nucleotide variant not provided [RCV000084353] Chr14:73192787 [GRCh38]
Chr14:73659495 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.697A>T (p.Met233Leu) single nucleotide variant not provided [RCV000084354] Chr14:73192792 [GRCh38]
Chr14:73659500 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) single nucleotide variant Alzheimer disease 3 [RCV001808318]|not provided [RCV000084355] Chr14:73192793 [GRCh38]
Chr14:73659501 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
NM_000021.4(PSEN1):c.699G>C (p.Met233Ile) single nucleotide variant not provided [RCV000084356] Chr14:73192794 [GRCh38]
Chr14:73659502 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) single nucleotide variant not provided [RCV000084357] Chr14:73192798 [GRCh38]
Chr14:73659506 [GRCh37]
Chr14:14q24.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000021.4(PSEN1):c.704T>C (p.Leu235Pro) single nucleotide variant not provided [RCV000084358] Chr14:73192799 [GRCh38]
Chr14:73659507 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu) single nucleotide variant Visual hallucination [RCV002243711]|not provided [RCV000084359] Chr14:73192804 [GRCh38]
Chr14:73659512 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.733A>C (p.Thr245Pro) single nucleotide variant not provided [RCV000084360] Chr14:73192828 [GRCh38]
Chr14:73659536 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.748T>G (p.Leu250Val) single nucleotide variant not provided [RCV000084362] Chr14:73192843 [GRCh38]
Chr14:73659551 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val) single nucleotide variant Alzheimer disease 3 [RCV003764779]|not provided [RCV000084365] Chr14:73198040 [GRCh38]
Chr14:73664748 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.781G>T (p.Val261Phe) single nucleotide variant not provided [RCV000084366] Chr14:73198042 [GRCh38]
Chr14:73664750 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) single nucleotide variant not provided [RCV000084367] Chr14:73198047 [GRCh38]
Chr14:73664755 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.787T>C (p.Cys263Arg) single nucleotide variant not provided [RCV000084368] Chr14:73198048 [GRCh38]
Chr14:73664756 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.788G>T (p.Cys263Phe) single nucleotide variant not provided [RCV000084369] Chr14:73198049 [GRCh38]
Chr14:73664757 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) single nucleotide variant Alzheimer disease 3 [RCV001387954]|Mental deterioration [RCV000415376]|not provided [RCV000084370] Chr14:73198052 [GRCh38]
Chr14:73664760 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) single nucleotide variant Alzheimer disease 3 [RCV001261442]|Alzheimer disease 3 [RCV002514496]|not provided [RCV000084372] Chr14:73198061 [GRCh38]
Chr14:73664769 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.805C>G (p.Arg269Gly) single nucleotide variant not provided [RCV000084373] Chr14:73198066 [GRCh38]
Chr14:73664774 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.815T>C (p.Val272Ala) single nucleotide variant not provided [RCV000084376] Chr14:73198076 [GRCh38]
Chr14:73664784 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.818A>C (p.Glu273Ala) single nucleotide variant not provided [RCV000084377] Chr14:73198079 [GRCh38]
Chr14:73664787 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) single nucleotide variant Alzheimer disease 3 [RCV001857412]|not provided [RCV000084378] Chr14:73198082 [GRCh38]
Chr14:73664790 [GRCh37]
Chr14:14q24.2		 uncertain significance|not provided
NM_000021.4(PSEN1):c.834A>C (p.Arg278Ser) single nucleotide variant not provided [RCV000084380] Chr14:73198095 [GRCh38]
Chr14:73664803 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.844C>G (p.Leu282Val) single nucleotide variant not provided [RCV000084382] Chr14:73198105 [GRCh38]
Chr14:73664813 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.845T>G (p.Leu282Arg) single nucleotide variant not provided [RCV000084383] Chr14:73198106 [GRCh38]
Chr14:73664814 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.850C>T (p.Pro284Ser) single nucleotide variant not provided [RCV000084384] Chr14:73198111 [GRCh38]
Chr14:73664819 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.851C>T (p.Pro284Leu) single nucleotide variant not provided [RCV000084385] Chr14:73198112 [GRCh38]
Chr14:73664820 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val) single nucleotide variant Early-onset autosomal dominant Alzheimer disease [RCV001808319]|not provided [RCV000084386] Chr14:73198115 [GRCh38]
Chr14:73664823 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.869-1G>T single nucleotide variant Alzheimer disease 3 [RCV002224959]|Alzheimer disease, familial, with spastic paraparesis and unusual plaques [RCV002224960]|not provided [RCV000084388] Chr14:73206385 [GRCh38]
Chr14:73673093 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.871A>C (p.Thr291Pro) single nucleotide variant not provided [RCV000084389] Chr14:73206388 [GRCh38]
Chr14:73673096 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) single nucleotide variant Alzheimer disease 3 [RCV000290884]|Alzheimer disease 3 [RCV000559984]|Alzheimer disease [RCV000172776]|Dilated cardiomyopathy 1U [RCV000382419]|not provided [RCV000084390]|not specified [RCV000242303] Chr14:73206470 [GRCh38]
Chr14:73673178 [GRCh37]
Chr14:14q24.2		 benign|likely benign|not provided
NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup) duplication not provided [RCV000084391]|not specified [RCV004689452] Chr14:73211865..73211866 [GRCh38]
Chr14:73678573..73678574 [GRCh37]
Chr14:14q24.2		 uncertain significance|not provided
NM_000021.4(PSEN1):c.1061C>T (p.Thr354Ile) single nucleotide variant not provided [RCV000084392] Chr14:73211874 [GRCh38]
Chr14:73678582 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1073G>A (p.Arg358Gln) single nucleotide variant not provided [RCV000084393] Chr14:73211886 [GRCh38]
Chr14:73678594 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1094C>A (p.Ser365Tyr) single nucleotide variant not provided [RCV000084394] Chr14:73211907 [GRCh38]
Chr14:73678615 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1130G>T (p.Arg377Met) single nucleotide variant not provided [RCV000084395] Chr14:73217126 [GRCh38]
Chr14:73683834 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1133G>T (p.Gly378Val) single nucleotide variant not provided [RCV000084396] Chr14:73217129 [GRCh38]
Chr14:73683837 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) single nucleotide variant Alzheimer disease 3 [RCV000198517]|not provided [RCV000084397] Chr14:73217137 [GRCh38]
Chr14:73683845 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
NM_000021.4(PSEN1):c.1151G>C (p.Gly384Ala) single nucleotide variant not provided [RCV000084398] Chr14:73217147 [GRCh38]
Chr14:73683855 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.1157T>C (p.Phe386Ser) single nucleotide variant not provided [RCV000084399] Chr14:73217153 [GRCh38]
Chr14:73683861 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1169G>T (p.Ser390Ile) single nucleotide variant not provided [RCV000084400] Chr14:73217165 [GRCh38]
Chr14:73683873 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1171G>T (p.Val391Phe) single nucleotide variant not provided [RCV000084401] Chr14:73217167 [GRCh38]
Chr14:73683875 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val) single nucleotide variant Alzheimer disease 3 [RCV002513899]|not provided [RCV000084402] Chr14:73217170 [GRCh38]
Chr14:73683878 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val) single nucleotide variant Alzheimer disease 3 [RCV002513900]|not provided [RCV000084404] Chr14:73217177 [GRCh38]
Chr14:73683885 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.1214A>G (p.Asn405Ser) single nucleotide variant not provided [RCV000084405] Chr14:73217210 [GRCh38]
Chr14:73683918 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) single nucleotide variant Alzheimer disease 3 [RCV000811198]|Alzheimer disease 3 [RCV004767067]|not provided [RCV000084406] Chr14:73217221 [GRCh38]
Chr14:73683929 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance|not provided
NM_000021.4(PSEN1):c.1254G>T (p.Leu418Phe) single nucleotide variant not provided [RCV000084408] Chr14:73219139 [GRCh38]
Chr14:73685847 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1259T>G (p.Leu420Arg) single nucleotide variant not provided [RCV000084409] Chr14:73219144 [GRCh38]
Chr14:73685852 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1271T>G (p.Leu424Arg) single nucleotide variant not provided [RCV000084410] Chr14:73219156 [GRCh38]
Chr14:73685864 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) single nucleotide variant Frontotemporal dementia [RCV002288582]|not provided [RCV000084412] Chr14:73219177 [GRCh38]
Chr14:73685885 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance|not provided
NM_000021.4(PSEN1):c.1303C>T (p.Leu435Phe) single nucleotide variant not provided [RCV000084413] Chr14:73219188 [GRCh38]
Chr14:73685896 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser) single nucleotide variant not provided [RCV000084414] Chr14:73219191 [GRCh38]
Chr14:73685899 [GRCh37]
Chr14:14q24.2		 likely pathogenic|not provided
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) single nucleotide variant Alzheimer disease 3 [RCV002470762]|not provided [RCV000084415] Chr14:73219200 [GRCh38]
Chr14:73685908 [GRCh37]
Chr14:14q24.2		 uncertain significance|not provided
NM_000021.4(PSEN1):c.1318_1320del (p.Thr440del) deletion Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques [RCV002271337]|not provided [RCV000084416] Chr14:73219202..73219204 [GRCh38]
Chr14:73685910..73685912 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.782T>G (p.Val261Gly) single nucleotide variant not specified [RCV000172775] Chr14:73198043 [GRCh38]
Chr14:73664751 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.322C>T (p.Arg108Trp) single nucleotide variant not provided [RCV000172095] Chr14:73171031 [GRCh38]
Chr14:73637739 [GRCh37]
Chr14:14q24.2		 uncertain significance
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1		 pathogenic
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 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
NM_000021.4(PSEN1):c.869-2000_956-1526del deletion not provided [RCV000149805] Chr14:73204386..73210243 [GRCh38]
Chr14:73671094..73676951 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.869-1624_956-2453del deletion not provided [RCV000149806] Chr14:73204760..73209314 [GRCh38]
Chr14:73671468..73676022 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.491C>T (p.Ala164Val) single nucleotide variant not provided [RCV000595802] Chr14:73186863 [GRCh38]
Chr14:73653571 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) single nucleotide variant Alzheimer disease 3 [RCV000342174]|Alzheimer disease 3 [RCV000861613]|Dilated cardiomyopathy 1U [RCV000285032]|not provided [RCV001528384]|not specified [RCV000245357] Chr14:73211830 [GRCh38]
Chr14:73678538 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.868+16G>T single nucleotide variant Acne inversa, familial, 3 [RCV001789241]|Alzheimer disease 3 [RCV001513933]|Alzheimer disease 3 [RCV001789239]|Dilated cardiomyopathy 1U [RCV001789240]|Frontotemporal dementia [RCV001789237]|Pick disease [RCV001789238]|not provided [RCV001682946]|not specified [RCV000250323] Chr14:73198145 [GRCh38]
Chr14:73664853 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.*3360A>G single nucleotide variant Alzheimer disease 3 [RCV000301031]|Dilated cardiomyopathy 1U [RCV000356242] Chr14:73222649 [GRCh38]
Chr14:73689357 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*1381G>A single nucleotide variant Alzheimer disease 3 [RCV000267646]|Dilated cardiomyopathy 1U [RCV000322840]|not provided [RCV003401320] Chr14:73220670 [GRCh38]
Chr14:73687378 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.*3525A>G single nucleotide variant Alzheimer disease 3 [RCV000267445]|Dilated cardiomyopathy 1U [RCV000362089] Chr14:73222814 [GRCh38]
Chr14:73689522 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*672G>A single nucleotide variant Alzheimer disease 3 [RCV000284552]|Dilated cardiomyopathy 1U [RCV000339467]|not provided [RCV003401319] Chr14:73219961 [GRCh38]
Chr14:73686669 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.*4030A>G single nucleotide variant Alzheimer disease 3 [RCV000309268]|Dilated cardiomyopathy 1U [RCV000265726]|not provided [RCV004705297] Chr14:73223319 [GRCh38]
Chr14:73690027 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*4078C>T single nucleotide variant Alzheimer disease 3 [RCV000269105]|Dilated cardiomyopathy 1U [RCV000366253] Chr14:73223367 [GRCh38]
Chr14:73690075 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2325A>G single nucleotide variant Alzheimer disease 3 [RCV000285824]|Dilated cardiomyopathy 1U [RCV000340677] Chr14:73221614 [GRCh38]
Chr14:73688322 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.-180C>T single nucleotide variant Alzheimer disease 3 [RCV000305356]|Dilated cardiomyopathy 1U [RCV000353047] Chr14:73136539 [GRCh38]
Chr14:73603247 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3941C>A single nucleotide variant Alzheimer disease 3 [RCV000358164]|Dilated cardiomyopathy 1U [RCV000305834] Chr14:73223230 [GRCh38]
Chr14:73689938 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*211G>A single nucleotide variant Alzheimer disease 3 [RCV000270119]|Dilated cardiomyopathy 1U [RCV000362387] Chr14:73219500 [GRCh38]
Chr14:73686208 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1585A>T single nucleotide variant Alzheimer disease 3 [RCV000288191]|Dilated cardiomyopathy 1U [RCV000352431] Chr14:73220874 [GRCh38]
Chr14:73687582 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.3(PSEN1):c.-226C>A single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000289019]|Early-onset autosomal dominant Alzheimer disease [RCV000346051] Chr14:73136493 [GRCh38]
Chr14:73603201 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*768A>G single nucleotide variant Alzheimer disease 3 [RCV000290350]|Dilated cardiomyopathy 1U [RCV000384703] Chr14:73220057 [GRCh38]
Chr14:73686765 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1958T>C single nucleotide variant Alzheimer disease 3 [RCV000332064]|Dilated cardiomyopathy 1U [RCV000386687] Chr14:73221247 [GRCh38]
Chr14:73687955 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3632G>A single nucleotide variant Alzheimer disease 3 [RCV000326145]|Dilated cardiomyopathy 1U [RCV000273256]|not provided [RCV001672501] Chr14:73222921 [GRCh38]
Chr14:73689629 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*1415C>A single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000377452]|Early-onset autosomal dominant Alzheimer disease [RCV000273094] Chr14:73220704 [GRCh38]
Chr14:73687412 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3823G>A single nucleotide variant Alzheimer disease 3 [RCV000292333]|Dilated cardiomyopathy 1U [RCV000338019] Chr14:73223112 [GRCh38]
Chr14:73689820 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*2108G>A single nucleotide variant Alzheimer disease 3 [RCV000319392]|Dilated cardiomyopathy 1U [RCV000292409] Chr14:73221397 [GRCh38]
Chr14:73688105 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*2161G>A single nucleotide variant Alzheimer disease 3 [RCV000335026]|Dilated cardiomyopathy 1U [RCV000394111] Chr14:73221450 [GRCh38]
Chr14:73688158 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2529G>T single nucleotide variant Alzheimer disease 3 [RCV000275022]|Dilated cardiomyopathy 1U [RCV000330089] Chr14:73221818 [GRCh38]
Chr14:73688526 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*3495A>G single nucleotide variant Alzheimer disease 3 [RCV000297954]|Dilated cardiomyopathy 1U [RCV000261458]|not provided [RCV002262987] Chr14:73222784 [GRCh38]
Chr14:73689492 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.*2430T>C single nucleotide variant Alzheimer disease 3 [RCV000314995]|Dilated cardiomyopathy 1U [RCV000369401] Chr14:73221719 [GRCh38]
Chr14:73688427 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*364T>C single nucleotide variant Alzheimer disease 3 [RCV000259925]|Dilated cardiomyopathy 1U [RCV000378777]|not provided [RCV001709590] Chr14:73219653 [GRCh38]
Chr14:73686361 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*1874G>T single nucleotide variant Alzheimer disease 3 [RCV000277074]|Dilated cardiomyopathy 1U [RCV000362160] Chr14:73221163 [GRCh38]
Chr14:73687871 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*4147T>G single nucleotide variant Alzheimer disease 3 [RCV000330145]|Dilated cardiomyopathy 1U [RCV000277191] Chr14:73223436 [GRCh38]
Chr14:73690144 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*3637C>T single nucleotide variant Alzheimer disease 3 [RCV000380818]|Dilated cardiomyopathy 1U [RCV000295775] Chr14:73222926 [GRCh38]
Chr14:73689634 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) single nucleotide variant Alzheimer disease 3 [RCV000325529]|Alzheimer disease 3 [RCV000954050]|Dilated cardiomyopathy 1U [RCV000277519] Chr14:73192749 [GRCh38]
Chr14:73659457 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.*4339T>C single nucleotide variant Alzheimer disease 3 [RCV000280836]|Dilated cardiomyopathy 1U [RCV000386952] Chr14:73223628 [GRCh38]
Chr14:73690336 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1380C>T single nucleotide variant Alzheimer disease 3 [RCV000353128]|Dilated cardiomyopathy 1U [RCV000298060] Chr14:73220669 [GRCh38]
Chr14:73687377 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2659A>T single nucleotide variant Alzheimer disease 3 [RCV000316897]|Dilated cardiomyopathy 1U [RCV000371408] Chr14:73221948 [GRCh38]
Chr14:73688656 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2633G>A single nucleotide variant Alzheimer disease 3 [RCV000356810]|Dilated cardiomyopathy 1U [RCV000261640] Chr14:73221922 [GRCh38]
Chr14:73688630 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1248+8T>C single nucleotide variant Alzheimer disease 3 [RCV000279008]|Alzheimer disease 3 [RCV000861400]|Dilated cardiomyopathy 1U [RCV000398929]|not provided [RCV001539708] Chr14:73217252 [GRCh38]
Chr14:73683960 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.21G>A (p.Pro7=) single nucleotide variant Alzheimer disease 3 [RCV000406851]|Dilated cardiomyopathy 1U [RCV000300122] Chr14:73148040 [GRCh38]
Chr14:73614748 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*360A>C single nucleotide variant Alzheimer disease 3 [RCV000264283]|Dilated cardiomyopathy 1U [RCV000321773] Chr14:73219649 [GRCh38]
Chr14:73686357 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*4367T>C single nucleotide variant Alzheimer disease 3 [RCV000371510]|Dilated cardiomyopathy 1U [RCV000319550] Chr14:73223656 [GRCh38]
Chr14:73690364 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1716TATGA[4] microsatellite Dilated Cardiomyopathy, Dominant [RCV000281404]|Early-onset autosomal dominant Alzheimer disease [RCV000336581] Chr14:73221004..73221005 [GRCh38]
Chr14:73687712..73687713 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1867ACAG[1] microsatellite Dilated Cardiomyopathy, Dominant [RCV000271117]|Early-onset autosomal dominant Alzheimer disease [RCV000326067]|not provided [RCV002262986] Chr14:73221156..73221159 [GRCh38]
Chr14:73687864..73687867 [GRCh37]
Chr14:14q24.2		 benign|uncertain significance
NM_000021.4(PSEN1):c.*947G>A single nucleotide variant Alzheimer disease 3 [RCV000345249]|Dilated cardiomyopathy 1U [RCV000399760]|not provided [RCV004714843] Chr14:73220236 [GRCh38]
Chr14:73686944 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*2836C>T single nucleotide variant Alzheimer disease 3 [RCV000282969]|Dilated cardiomyopathy 1U [RCV000377364] Chr14:73222125 [GRCh38]
Chr14:73688833 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2864A>C single nucleotide variant Alzheimer disease 3 [RCV000347347]|Dilated cardiomyopathy 1U [RCV000383864]|not provided [RCV004714844] Chr14:73222153 [GRCh38]
Chr14:73688861 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.3(PSEN1):c.-214T>G single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000282773]|Early-onset autosomal dominant Alzheimer disease [RCV000400974] Chr14:73136505 [GRCh38]
Chr14:73603213 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*4095A>G single nucleotide variant Alzheimer disease 3 [RCV000388120]|Dilated cardiomyopathy 1U [RCV000326547] Chr14:73223384 [GRCh38]
Chr14:73690092 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1690T>C single nucleotide variant Alzheimer disease 3 [RCV000400479]|Dilated cardiomyopathy 1U [RCV000348867] Chr14:73220979 [GRCh38]
Chr14:73687687 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*1360G>C single nucleotide variant Alzheimer disease 3 [RCV000356450]|Dilated cardiomyopathy 1U [RCV000261565] Chr14:73220649 [GRCh38]
Chr14:73687357 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3199C>T single nucleotide variant Alzheimer disease 3 [RCV000398467]|Dilated cardiomyopathy 1U [RCV000350115] Chr14:73222488 [GRCh38]
Chr14:73689196 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3722C>T single nucleotide variant Alzheimer disease 3 [RCV000350674]|Dilated cardiomyopathy 1U [RCV000386646]|not provided [RCV001683262] Chr14:73223011 [GRCh38]
Chr14:73689719 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) single nucleotide variant Alzheimer disease 3 [RCV000357249]|Alzheimer disease 3 [RCV001313651]|Dilated cardiomyopathy 1U [RCV000274293] Chr14:73148098 [GRCh38]
Chr14:73614806 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*313C>A single nucleotide variant Alzheimer disease 3 [RCV000308794]|Dilated cardiomyopathy 1U [RCV000365897]|not provided [RCV001696208] Chr14:73219602 [GRCh38]
Chr14:73686310 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) single nucleotide variant Alzheimer disease 3 [RCV000377075]|Alzheimer disease 3 [RCV001088486]|Dilated cardiomyopathy 1U [RCV000329570]|PSEN1-related disorder [RCV004752845]|not provided [RCV000874610] Chr14:73211815 [GRCh38]
Chr14:73678523 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.337C>T (p.Leu113=) single nucleotide variant Alzheimer disease 3 [RCV000370131]|Alzheimer disease 3 [RCV001850658]|Dilated cardiomyopathy 1U [RCV000331752] Chr14:73171046 [GRCh38]
Chr14:73637754 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*71A>G single nucleotide variant Alzheimer disease 3 [RCV000367976]|Dilated cardiomyopathy 1U [RCV000311002] Chr14:73219360 [GRCh38]
Chr14:73686068 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1147C>T single nucleotide variant Alzheimer disease 3 [RCV000392920]|Dilated cardiomyopathy 1U [RCV000311020]|not provided [RCV001660642] Chr14:73220436 [GRCh38]
Chr14:73687144 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.1263A>G (p.Thr421=) single nucleotide variant not provided [RCV000291143] Chr14:73219148 [GRCh38]
Chr14:73685856 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*119T>C single nucleotide variant Alzheimer disease 3 [RCV000314640]|Dilated cardiomyopathy 1U [RCV000392148] Chr14:73219408 [GRCh38]
Chr14:73686116 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3889G>A single nucleotide variant Alzheimer disease 3 [RCV000401077]|Dilated cardiomyopathy 1U [RCV000336249]|not provided [RCV001618551] Chr14:73223178 [GRCh38]
Chr14:73689886 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*1791A>T single nucleotide variant Alzheimer disease 3 [RCV000407242]|Dilated cardiomyopathy 1U [RCV000360726] Chr14:73221080 [GRCh38]
Chr14:73687788 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.-191C>T single nucleotide variant Alzheimer disease 3 [RCV000400137]|Dilated cardiomyopathy 1U [RCV000340109] Chr14:73136528 [GRCh38]
Chr14:73603236 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2160C>T single nucleotide variant Alzheimer disease 3 [RCV000280011]|Dilated cardiomyopathy 1U [RCV000374088] Chr14:73221449 [GRCh38]
Chr14:73688157 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.643T>C (p.Trp215Arg) single nucleotide variant not provided [RCV000487858] Chr14:73192738 [GRCh38]
Chr14:73659446 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.869-6C>T single nucleotide variant not specified [RCV002281752] Chr14:73206380 [GRCh38]
Chr14:73673088 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1357G>A (p.Val453Ile) single nucleotide variant not provided [RCV000488276] Chr14:73219242 [GRCh38]
Chr14:73685950 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1792T>C single nucleotide variant Alzheimer disease 3 [RCV000302589]|Dilated cardiomyopathy 1U [RCV000365706] Chr14:73221081 [GRCh38]
Chr14:73687789 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1145G>A single nucleotide variant Alzheimer disease 3 [RCV000350952]|Dilated cardiomyopathy 1U [RCV000314728] Chr14:73220434 [GRCh38]
Chr14:73687142 [GRCh37]
Chr14:14q24.2		 uncertain significance
NC_000014.9:g.73136423C>T single nucleotide variant Alzheimer disease 3 [RCV001512125]|Dilated Cardiomyopathy, Dominant [RCV000408289]|Early-onset autosomal dominant Alzheimer disease [RCV000314754]|not provided [RCV004703902] Chr14:73136423 [GRCh38]
Chr14:73603131 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*2401C>T single nucleotide variant Alzheimer disease 3 [RCV000392497]|Dilated cardiomyopathy 1U [RCV000363680] Chr14:73221690 [GRCh38]
Chr14:73688398 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) single nucleotide variant Alzheimer disease 3 [RCV004586752]|not provided [RCV003480665]|not specified [RCV000516919] Chr14:73198060 [GRCh38]
Chr14:73664768 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.*1626C>A single nucleotide variant Alzheimer disease 3 [RCV000388284]|Dilated cardiomyopathy 1U [RCV000293915] Chr14:73220915 [GRCh38]
Chr14:73687623 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.3(PSEN1):c.-241G>T single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000333397]|Early-onset autosomal dominant Alzheimer disease [RCV000381109] Chr14:73136478 [GRCh38]
Chr14:73603186 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1725A>G single nucleotide variant Alzheimer disease 3 [RCV000401288]|Dilated cardiomyopathy 1U [RCV000305959] Chr14:73221014 [GRCh38]
Chr14:73687722 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*23T>C single nucleotide variant Alzheimer disease 3 [RCV000390085]|Dilated cardiomyopathy 1U [RCV000336438] Chr14:73219312 [GRCh38]
Chr14:73686020 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3619A>G single nucleotide variant Alzheimer disease 3 [RCV000322500]|Dilated cardiomyopathy 1U [RCV000377109] Chr14:73222908 [GRCh38]
Chr14:73689616 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2758T>G single nucleotide variant Alzheimer disease 3 [RCV000322757]|Dilated cardiomyopathy 1U [RCV000286340] Chr14:73222047 [GRCh38]
Chr14:73688755 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3848G>C single nucleotide variant Alzheimer disease 3 [RCV000401463]|Dilated cardiomyopathy 1U [RCV000297682] Chr14:73223137 [GRCh38]
Chr14:73689845 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2330G>T single nucleotide variant Alzheimer disease 3 [RCV000399725]|Dilated cardiomyopathy 1U [RCV000309068] Chr14:73221619 [GRCh38]
Chr14:73688327 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) single nucleotide variant Alzheimer disease 3 [RCV001314550]|not provided [RCV003884591]|not specified [RCV000518371] Chr14:73211886 [GRCh38]
Chr14:73678594 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*595T>C single nucleotide variant Alzheimer disease 3 [RCV000324446]|Dilated cardiomyopathy 1U [RCV000378990] Chr14:73219884 [GRCh38]
Chr14:73686592 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2865C>A single nucleotide variant Alzheimer disease 3 [RCV000344367]|Dilated cardiomyopathy 1U [RCV000289420] Chr14:73222154 [GRCh38]
Chr14:73688862 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1418G>A single nucleotide variant Alzheimer disease 3 [RCV000328159]|Dilated cardiomyopathy 1U [RCV000382815] Chr14:73220707 [GRCh38]
Chr14:73687415 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3033CT[2] microsatellite Dilated Cardiomyopathy, Dominant [RCV000402268]|Early-onset autosomal dominant Alzheimer disease [RCV000313895] Chr14:73222321..73222322 [GRCh38]
Chr14:73689029..73689030 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3669G>A single nucleotide variant Alzheimer disease 3 [RCV001120967]|Dilated cardiomyopathy 1U [RCV001120968] Chr14:73222958 [GRCh38]
Chr14:73689666 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3789G>A single nucleotide variant Alzheimer disease 3 [RCV001120969]|Dilated cardiomyopathy 1U [RCV001120970] Chr14:73223078 [GRCh38]
Chr14:73689786 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*229C>T single nucleotide variant Alzheimer disease 3 [RCV001120477]|Dilated cardiomyopathy 1U [RCV001120476] Chr14:73219518 [GRCh38]
Chr14:73686226 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu) single nucleotide variant Pick disease [RCV002249680]|not provided [RCV001092312] Chr14:73217129 [GRCh38]
Chr14:73683837 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys) single nucleotide variant Mental deterioration [RCV000415024] Chr14:73171023 [GRCh38]
Chr14:73637731 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr) single nucleotide variant not provided [RCV000518263] Chr14:73173630 [GRCh38]
Chr14:73640338 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NC_000014.9:g.73136191C>G single nucleotide variant Alzheimer disease 3 [RCV001516352]|PSEN1-related disorder [RCV003925647]|not provided [RCV003222026] Chr14:73136191 [GRCh38]
Chr14:73602899 [GRCh37]
Chr14:14q24.2		 benign|likely benign
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
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
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 14q24.2(chr14:73544397-73618080)x3 copy number gain See cases [RCV000511238] Chr14:73544397..73618080 [GRCh37]
Chr14:14q24.2		 uncertain significance
GRCh37/hg19 14q24.2(chr14:73264012-73621110)x3 copy number gain not provided [RCV000683601] Chr14:73264012..73621110 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.389T>C (p.Leu130Pro) single nucleotide variant not provided [RCV000712871] Chr14:73173616 [GRCh38]
Chr14:73640324 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.525C>G (p.Phe175Leu) single nucleotide variant PSEN1-related disorder [RCV004753004]|not provided [RCV000712872] Chr14:73186897 [GRCh38]
Chr14:73653605 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) single nucleotide variant Alzheimer disease 3 [RCV001055042]|not provided [RCV000712873] Chr14:73192730 [GRCh38]
Chr14:73659438 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.1141C>A (p.Leu381Ile) single nucleotide variant not provided [RCV000712869] Chr14:73217137 [GRCh38]
Chr14:73683845 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) single nucleotide variant Alzheimer disease 3 [RCV001081579]|not provided [RCV000712870] Chr14:73171030 [GRCh38]
Chr14:73637738 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.869-2A>T single nucleotide variant Alzheimer disease 3 [RCV000703026] Chr14:73206384 [GRCh38]
Chr14:73673092 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) single nucleotide variant Alzheimer disease 3 [RCV000697016] Chr14:73217144 [GRCh38]
Chr14:73683852 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) single nucleotide variant Frontotemporal dementia [RCV000736260] Chr14:73173636 [GRCh38]
Chr14:73640344 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.869-1G>A single nucleotide variant Alzheimer disease 3 [RCV002470967]|Alzheimer disease 3 [RCV002533770]|Alzheimer disease [RCV000736261] Chr14:73206385 [GRCh38]
Chr14:73673093 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro) single nucleotide variant Alzheimer disease [RCV000736262] Chr14:73192760 [GRCh38]
Chr14:73659468 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr) insertion Alzheimer disease [RCV000736263] Chr14:73186881..73186882 [GRCh38]
Chr14:73653589..73653590 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser) single nucleotide variant Alzheimer disease [RCV000736264] Chr14:73219182 [GRCh38]
Chr14:73685890 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) single nucleotide variant Frontotemporal dementia [RCV000736265] Chr14:73173591 [GRCh38]
Chr14:73640299 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.424G>A (p.Val142Ile) single nucleotide variant Alzheimer disease [RCV000736266] Chr14:73173651 [GRCh38]
Chr14:73640359 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe) single nucleotide variant Alzheimer disease [RCV000736267] Chr14:73217173 [GRCh38]
Chr14:73683881 [GRCh37]
Chr14:14q24.2		 likely 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 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 14q24.2-24.3(chr14:73304565-73833005)x3 copy number gain not provided [RCV000751051] Chr14:73304565..73833005 [GRCh37]
Chr14:14q24.2-24.3		 likely benign
GRCh37/hg19 14q24.2(chr14:73373094-73702874)x3 copy number gain not provided [RCV000751052] Chr14:73373094..73702874 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.955+200T>C single nucleotide variant not provided [RCV001679699] Chr14:73206672 [GRCh38]
Chr14:73673380 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.300dup (p.Lys101Ter) duplication Alzheimer disease 3 [RCV001647233] Chr14:73171007..73171008 [GRCh38]
Chr14:73637715..73637716 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.*2695G>A single nucleotide variant Alzheimer disease 3 [RCV001117265]|Dilated cardiomyopathy 1U [RCV001117266] Chr14:73221984 [GRCh38]
Chr14:73688692 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) single nucleotide variant Alzheimer disease 3 [RCV001120367]|Alzheimer disease 3 [RCV002539275]|Dilated cardiomyopathy 1U [RCV001120366]|Inborn genetic diseases [RCV003259007]|not provided [RCV000878970] Chr14:73170943 [GRCh38]
Chr14:73637651 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn) single nucleotide variant Alzheimer disease 3 [RCV001058511] Chr14:73219204 [GRCh38]
Chr14:73685912 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.63C>T (p.His21=) single nucleotide variant not provided [RCV000925573] Chr14:73148082 [GRCh38]
Chr14:73614790 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.88-7C>T single nucleotide variant Alzheimer disease 3 [RCV001491480] Chr14:73170790 [GRCh38]
Chr14:73637498 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.711T>C (p.Phe237=) single nucleotide variant Alzheimer disease 3 [RCV002064831] Chr14:73192806 [GRCh38]
Chr14:73659514 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1311C>T (p.Ile437=) single nucleotide variant Alzheimer disease 3 [RCV002541013] Chr14:73219196 [GRCh38]
Chr14:73685904 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) single nucleotide variant Alzheimer disease 3 [RCV000813898] Chr14:73192717 [GRCh38]
Chr14:73659425 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) single nucleotide variant Alzheimer disease 3 [RCV000799361] Chr14:73206424 [GRCh38]
Chr14:73673132 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) single nucleotide variant Alzheimer disease 3 [RCV000797696]|Alzheimer disease 3 [RCV001116885]|Dilated cardiomyopathy 1U [RCV001116884] Chr14:73211891 [GRCh38]
Chr14:73678599 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.781G>A (p.Val261Ile) single nucleotide variant Early onset Alzheimer disease with behavioral disturbance [RCV000984884] Chr14:73198042 [GRCh38]
Chr14:73664750 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) single nucleotide variant Alzheimer disease 3 [RCV000805834] Chr14:73219254 [GRCh38]
Chr14:73685962 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) single nucleotide variant Alzheimer disease 3 [RCV000816670] Chr14:73173574 [GRCh38]
Chr14:73640282 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) single nucleotide variant Alzheimer disease 3 [RCV000803782]|PSEN1-related disorder [RCV003411770] Chr14:73192754 [GRCh38]
Chr14:73659462 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val) single nucleotide variant Alzheimer disease 3 [RCV000790841]|not provided [RCV000995205] Chr14:73219155 [GRCh38]
Chr14:73685863 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) single nucleotide variant Alzheimer disease 3 [RCV000823608] Chr14:73173628 [GRCh38]
Chr14:73640336 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) single nucleotide variant Alzheimer disease 3 [RCV000821428] Chr14:73192721 [GRCh38]
Chr14:73659429 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.715A>G (p.Lys239Glu) single nucleotide variant not provided [RCV000992720] Chr14:73192810 [GRCh38]
Chr14:73659518 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2017A>T single nucleotide variant Alzheimer disease 3 [RCV001118802]|Dilated cardiomyopathy 1U [RCV001118803] Chr14:73221306 [GRCh38]
Chr14:73688014 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*390T>G single nucleotide variant Alzheimer disease 3 [RCV001116997]|Alzheimer disease 3 [RCV002482217]|Dilated cardiomyopathy 1U [RCV001116998] Chr14:73219679 [GRCh38]
Chr14:73686387 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*438C>T single nucleotide variant Alzheimer disease 3 [RCV001117001]|Dilated cardiomyopathy 1U [RCV001117002] Chr14:73219727 [GRCh38]
Chr14:73686435 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2580C>T single nucleotide variant Alzheimer disease 3 [RCV001115828]|Dilated cardiomyopathy 1U [RCV001115827]|not provided [RCV003326542] Chr14:73221869 [GRCh38]
Chr14:73688577 [GRCh37]
Chr14:14q24.2		 benign|likely benign|uncertain significance
NM_000021.4(PSEN1):c.*3831C>T single nucleotide variant Alzheimer disease 3 [RCV001116042]|Dilated cardiomyopathy 1U [RCV001116043] Chr14:73223120 [GRCh38]
Chr14:73689828 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*4113G>A single nucleotide variant Alzheimer disease 3 [RCV001117493]|Dilated cardiomyopathy 1U [RCV001117494] Chr14:73223402 [GRCh38]
Chr14:73690110 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*328C>T single nucleotide variant Alzheimer disease 3 [RCV001115571]|Dilated cardiomyopathy 1U [RCV001115570] Chr14:73219617 [GRCh38]
Chr14:73686325 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) single nucleotide variant Alzheimer disease 3 [RCV000785875] Chr14:73192646 [GRCh38]
Chr14:73659354 [GRCh37]
Chr14:14q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) single nucleotide variant Alzheimer disease 3 [RCV000782176]|Frontotemporal dementia [RCV001196175] Chr14:73173583 [GRCh38]
Chr14:73640291 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp) single nucleotide variant Frontotemporal dementia [RCV001090096] Chr14:73170812 [GRCh38]
Chr14:73637520 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*449T>C single nucleotide variant Alzheimer disease 3 [RCV001118628]|Dilated cardiomyopathy 1U [RCV001118629] Chr14:73219738 [GRCh38]
Chr14:73686446 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.1167C>T (p.Tyr389=) single nucleotide variant Alzheimer disease 3 [RCV001116887]|Dilated cardiomyopathy 1U [RCV001116886] Chr14:73217163 [GRCh38]
Chr14:73683871 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) single nucleotide variant Alzheimer disease 3 [RCV000873640]|not specified [RCV004702492] Chr14:73173593 [GRCh38]
Chr14:73640301 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.*2357T>A single nucleotide variant Alzheimer disease 3 [RCV001120762]|Dilated cardiomyopathy 1U [RCV001120763] Chr14:73221646 [GRCh38]
Chr14:73688354 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del) microsatellite Alzheimer disease 3 [RCV000850226] Chr14:73186886..73186888 [GRCh38]
Chr14:73653594..73653596 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) single nucleotide variant Alzheimer disease 3 [RCV001120059]|Alzheimer disease 3 [RCV001856575]|Dilated cardiomyopathy 1U [RCV001120060] Chr14:73170834 [GRCh38]
Chr14:73637542 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1316G>T single nucleotide variant Alzheimer disease 3 [RCV001117084]|Dilated cardiomyopathy 1U [RCV001117085] Chr14:73220605 [GRCh38]
Chr14:73687313 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1980C>T single nucleotide variant Alzheimer disease 3 [RCV001117174]|Dilated cardiomyopathy 1U [RCV001117173] Chr14:73221269 [GRCh38]
Chr14:73687977 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*801C>T single nucleotide variant Alzheimer disease 3 [RCV001120571]|Dilated cardiomyopathy 1U [RCV001120570] Chr14:73220090 [GRCh38]
Chr14:73686798 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3538C>G single nucleotide variant Alzheimer disease 3 [RCV001117386]|Dilated cardiomyopathy 1U [RCV001117385] Chr14:73222827 [GRCh38]
Chr14:73689535 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr) single nucleotide variant Alzheimer disease 3 [RCV001047251] Chr14:73186881 [GRCh38]
Chr14:73653589 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.80G>A (p.Arg27His) single nucleotide variant Alzheimer disease 3 [RCV001120055]|Dilated cardiomyopathy 1U [RCV001120056]|not specified [RCV004689997] Chr14:73148099 [GRCh38]
Chr14:73614807 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*230G>T single nucleotide variant Alzheimer disease 3 [RCV001120478]|Dilated cardiomyopathy 1U [RCV001120479]|not provided [RCV002511045] Chr14:73219519 [GRCh38]
Chr14:73686227 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.1158C>A (p.Phe386Leu) single nucleotide variant not provided [RCV000992719] Chr14:73217154 [GRCh38]
Chr14:73683862 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) single nucleotide variant Alzheimer disease 3 [RCV001067591]|not provided [RCV003222216] Chr14:73173702 [GRCh38]
Chr14:73640410 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.1303C>G (p.Leu435Val) single nucleotide variant not provided [RCV000995206] Chr14:73219188 [GRCh38]
Chr14:73685896 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly) single nucleotide variant Alzheimer disease 3 [RCV001240561] Chr14:73211847 [GRCh38]
Chr14:73678555 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.339A>G (p.Leu113=) single nucleotide variant Alzheimer disease 3 [RCV001241838] Chr14:73173566 [GRCh38]
Chr14:73640274 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr) single nucleotide variant Alzheimer disease 3 [RCV001208063] Chr14:73170971 [GRCh38]
Chr14:73637679 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys) single nucleotide variant Alzheimer disease 3 [RCV000853575] Chr14:73170966 [GRCh38]
Chr14:73637674 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.485T>C (p.Ile162Thr) single nucleotide variant not specified [RCV003317956] Chr14:73186857 [GRCh38]
Chr14:73653565 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp) single nucleotide variant Alzheimer disease 3 [RCV000995615]|Alzheimer disease 3 [RCV003769343] Chr14:73192712 [GRCh38]
Chr14:73659420 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.784T>C (p.Leu262=) single nucleotide variant Alzheimer disease 3 [RCV001115470]|Dilated cardiomyopathy 1U [RCV001115469] Chr14:73198045 [GRCh38]
Chr14:73664753 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1884G>T single nucleotide variant Alzheimer disease 3 [RCV001115741]|Dilated cardiomyopathy 1U [RCV001115742] Chr14:73221173 [GRCh38]
Chr14:73687881 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*657C>T single nucleotide variant Alzheimer disease 3 [RCV001118632]|Dilated cardiomyopathy 1U [RCV001118633] Chr14:73219946 [GRCh38]
Chr14:73686654 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1625A>G single nucleotide variant Alzheimer disease 3 [RCV001118720]|Dilated cardiomyopathy 1U [RCV001118721] Chr14:73220914 [GRCh38]
Chr14:73687622 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3566A>G single nucleotide variant Alzheimer disease 3 [RCV001118994]|Dilated cardiomyopathy 1U [RCV001118995]|not provided [RCV004704417] Chr14:73222855 [GRCh38]
Chr14:73689563 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.*400G>A single nucleotide variant Alzheimer disease 3 [RCV001116999]|Dilated cardiomyopathy 1U [RCV001117000] Chr14:73219689 [GRCh38]
Chr14:73686397 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly) single nucleotide variant Alzheimer disease 3 [RCV001230382] Chr14:73171017 [GRCh38]
Chr14:73637725 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.*2604C>T single nucleotide variant Alzheimer disease 3 [RCV001117264]|Dilated cardiomyopathy 1U [RCV001117263] Chr14:73221893 [GRCh38]
Chr14:73688601 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.96T>C (p.Asn32=) single nucleotide variant not provided [RCV003401570]|not specified [RCV001663885] Chr14:73170805 [GRCh38]
Chr14:73637513 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.339-245A>G single nucleotide variant not provided [RCV001568081] Chr14:73173321 [GRCh38]
Chr14:73640029 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.956-264G>A single nucleotide variant not provided [RCV001617223] Chr14:73211505 [GRCh38]
Chr14:73678213 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.625G>C (p.Gly209Arg) single nucleotide variant not provided [RCV001543544] Chr14:73192720 [GRCh38]
Chr14:73659428 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.869-263C>A single nucleotide variant not provided [RCV001696009] Chr14:73206123 [GRCh38]
Chr14:73672831 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.770-21T>C single nucleotide variant not provided [RCV001688899] Chr14:73198010 [GRCh38]
Chr14:73664718 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) single nucleotide variant Alzheimer disease 3 [RCV000896851]|Alzheimer disease 3 [RCV001115472]|Dilated cardiomyopathy 1U [RCV001115471]|PSEN1-related disorder [RCV004753094] Chr14:73198053 [GRCh38]
Chr14:73664761 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.813G>T (p.Leu271=) single nucleotide variant Alzheimer disease 3 [RCV001505453] Chr14:73198074 [GRCh38]
Chr14:73664782 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe) single nucleotide variant Alzheimer disease 3 [RCV001049005]|Alzheimer disease 3 [RCV002282436] Chr14:73219139 [GRCh38]
Chr14:73685847 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.*3328C>G single nucleotide variant Alzheimer disease 3 [RCV001115926]|Dilated cardiomyopathy 1U [RCV001115927] Chr14:73222617 [GRCh38]
Chr14:73689325 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*3358A>G single nucleotide variant Alzheimer disease 3 [RCV001115929]|Dilated cardiomyopathy 1U [RCV001115928]|not provided [RCV004706016] Chr14:73222647 [GRCh38]
Chr14:73689355 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.494G>T (p.Trp165Leu) single nucleotide variant not provided [RCV001092311] Chr14:73186866 [GRCh38]
Chr14:73653574 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.*3130C>T single nucleotide variant Alzheimer disease 3 [RCV001120857]|Dilated cardiomyopathy 1U [RCV001120856] Chr14:73222419 [GRCh38]
Chr14:73689127 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3321G>C single nucleotide variant Alzheimer disease 3 [RCV001120858]|Dilated cardiomyopathy 1U [RCV001120859] Chr14:73222610 [GRCh38]
Chr14:73689318 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser) single nucleotide variant Alzheimer disease 3 [RCV001070299]|not specified [RCV003317428] Chr14:73186857 [GRCh38]
Chr14:73653565 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.480+144C>T single nucleotide variant not provided [RCV001565994] Chr14:73173851 [GRCh38]
Chr14:73640559 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.548+212A>T single nucleotide variant not provided [RCV001596579] Chr14:73187132 [GRCh38]
Chr14:73653840 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.87+252G>A single nucleotide variant not provided [RCV001655484] Chr14:73148358 [GRCh38]
Chr14:73615066 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.480+223A>G single nucleotide variant not provided [RCV001655478] Chr14:73173930 [GRCh38]
Chr14:73640638 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.338+206T>C single nucleotide variant not provided [RCV001723050] Chr14:73171253 [GRCh38]
Chr14:73637961 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.1129+151T>C single nucleotide variant not provided [RCV001677609] Chr14:73212093 [GRCh38]
Chr14:73678801 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.*562T>C single nucleotide variant Alzheimer disease 3 [RCV001118631]|Dilated cardiomyopathy 1U [RCV001118630] Chr14:73219851 [GRCh38]
Chr14:73686559 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser) single nucleotide variant Alzheimer disease 3 [RCV001043730] Chr14:73170978 [GRCh38]
Chr14:73637686 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.375G>C (p.Val125=) single nucleotide variant Alzheimer disease 3 [RCV001120368]|Dilated cardiomyopathy 1U [RCV001120369] Chr14:73173602 [GRCh38]
Chr14:73640310 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*166T>A single nucleotide variant Alzheimer disease 3 [RCV001120474]|Dilated cardiomyopathy 1U [RCV001120475] Chr14:73219455 [GRCh38]
Chr14:73686163 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*807G>A single nucleotide variant Alzheimer disease 3 [RCV001120573]|Dilated cardiomyopathy 1U [RCV001120572] Chr14:73220096 [GRCh38]
Chr14:73686804 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1130-193G>T single nucleotide variant not provided [RCV001533924] Chr14:73216933 [GRCh38]
Chr14:73683641 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.1129+225A>G single nucleotide variant not provided [RCV001615689] Chr14:73212167 [GRCh38]
Chr14:73678875 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.263C>T (p.Pro88Leu) single nucleotide variant not provided [RCV001092310] Chr14:73170972 [GRCh38]
Chr14:73637680 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.*1484A>C single nucleotide variant Alzheimer disease 3 [RCV001118719]|Dilated cardiomyopathy 1U [RCV001118718] Chr14:73220773 [GRCh38]
Chr14:73687481 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*2846G>A single nucleotide variant Alzheimer disease 3 [RCV001118895]|Dilated cardiomyopathy 1U [RCV001118896] Chr14:73222135 [GRCh38]
Chr14:73688843 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1858T>A single nucleotide variant Alzheimer disease 3 [RCV001115740]|Dilated cardiomyopathy 1U [RCV001115739] Chr14:73221147 [GRCh38]
Chr14:73687855 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*3484A>C single nucleotide variant Alzheimer disease 3 [RCV001115930]|Dilated cardiomyopathy 1U [RCV001115931] Chr14:73222773 [GRCh38]
Chr14:73689481 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.-201A>C single nucleotide variant Alzheimer disease 3 [RCV001118532]|Dilated cardiomyopathy 1U [RCV001118531] Chr14:73136518 [GRCh38]
Chr14:73603226 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*4338A>G single nucleotide variant Alzheimer disease 3 [RCV001119091]|Dilated cardiomyopathy 1U [RCV001119090] Chr14:73223627 [GRCh38]
Chr14:73690335 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.843G>A (p.Thr281=) single nucleotide variant Alzheimer disease 3 [RCV001115474]|Dilated cardiomyopathy 1U [RCV001115473] Chr14:73198104 [GRCh38]
Chr14:73664812 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*265A>G single nucleotide variant Alzheimer disease 3 [RCV001115568]|Dilated cardiomyopathy 1U [RCV001115569] Chr14:73219554 [GRCh38]
Chr14:73686262 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*1910A>G single nucleotide variant Alzheimer disease 3 [RCV001117172]|Dilated cardiomyopathy 1U [RCV001117171] Chr14:73221199 [GRCh38]
Chr14:73687907 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.*2543C>T single nucleotide variant Alzheimer disease 3 [RCV001115825]|Dilated cardiomyopathy 1U [RCV001115826] Chr14:73221832 [GRCh38]
Chr14:73688540 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*3508G>A single nucleotide variant Alzheimer disease 3 [RCV001117383]|Dilated cardiomyopathy 1U [RCV001117384] Chr14:73222797 [GRCh38]
Chr14:73689505 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.*1889A>G single nucleotide variant Alzheimer disease 3 [RCV001117170]|Dilated cardiomyopathy 1U [RCV001117169] Chr14:73221178 [GRCh38]
Chr14:73687886 [GRCh37]
Chr14:14q24.2		 uncertain significance
GRCh37/hg19 14q24.2(chr14:73337224-73617867)x3 copy number gain not provided [RCV001259786] Chr14:73337224..73617867 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys) single nucleotide variant Alzheimer disease 3 [RCV001350081] Chr14:73192762 [GRCh38]
Chr14:73659470 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val) single nucleotide variant Alzheimer disease 3 [RCV001324627] Chr14:73217236 [GRCh38]
Chr14:73683944 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg) single nucleotide variant Frontotemporal dementia [RCV001261949] Chr14:73170972 [GRCh38]
Chr14:73637680 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr) single nucleotide variant Alzheimer disease 3 [RCV001281064] Chr14:73198060 [GRCh38]
Chr14:73664768 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) single nucleotide variant Alzheimer disease 3 [RCV001871727]|not provided [RCV001289154] Chr14:73219194 [GRCh38]
Chr14:73685902 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) single nucleotide variant Alzheimer disease 3 [RCV001378264]|PSEN1-related disorder [RCV003918832]|not provided [RCV001289155] Chr14:73192840 [GRCh38]
Chr14:73659548 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile) single nucleotide variant Alzheimer disease 3 [RCV001315317] Chr14:73186853 [GRCh38]
Chr14:73653561 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys) single nucleotide variant Alzheimer disease 3 [RCV001325814] Chr14:73192661 [GRCh38]
Chr14:73659369 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr) single nucleotide variant Alzheimer disease 3 [RCV001325624] Chr14:73198070 [GRCh38]
Chr14:73664778 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln) single nucleotide variant Alzheimer disease 3 [RCV001392197] Chr14:73170870 [GRCh38]
Chr14:73637578 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.338+7A>G single nucleotide variant Alzheimer disease 3 [RCV001326693] Chr14:73171054 [GRCh38]
Chr14:73637762 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp) single nucleotide variant Alzheimer disease 3 [RCV001296368] Chr14:73170887 [GRCh38]
Chr14:73637595 [GRCh37]
Chr14:14q24.2		 uncertain significance
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3		 likely pathogenic
NM_000021.4(PSEN1):c.138C>T (p.His46=) single nucleotide variant Alzheimer disease 3 [RCV001513571] Chr14:73170847 [GRCh38]
Chr14:73637555 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.798T>A (p.Gly266=) single nucleotide variant Alzheimer disease 3 [RCV001453064]|PSEN1-related disorder [RCV003938812] Chr14:73198059 [GRCh38]
Chr14:73664767 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.-136+213G>A single nucleotide variant Alzheimer disease 3 [RCV001495274]|not provided [RCV003399258] Chr14:73136796 [GRCh38]
Chr14:73603504 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.264T>C (p.Pro88=) single nucleotide variant Alzheimer disease 3 [RCV001476967] Chr14:73170973 [GRCh38]
Chr14:73637681 [GRCh37]
Chr14:14q24.2		 likely benign
NC_000014.9:g.73136378del deletion Alzheimer disease 3 [RCV001518793] Chr14:73136374 [GRCh38]
Chr14:73603082 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.435C>T (p.Val145=) single nucleotide variant Alzheimer disease 3 [RCV001481363] Chr14:73173662 [GRCh38]
Chr14:73640370 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.843G>C (p.Thr281=) single nucleotide variant Alzheimer disease 3 [RCV001509906]|Inborn genetic diseases [RCV004656619] Chr14:73198104 [GRCh38]
Chr14:73664812 [GRCh37]
Chr14:14q24.2		 benign|likely benign
NM_000021.4(PSEN1):c.520_522del (p.Leu174del) deletion not provided [RCV001726919] Chr14:73186890..73186892 [GRCh38]
Chr14:73653598..73653600 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.1234G>A (p.Val412Ile) single nucleotide variant PSEN1-related disorder [RCV003416442]|not provided [RCV001768349]|not specified [RCV004699465] Chr14:73217230 [GRCh38]
Chr14:73683938 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.221C>T (p.Thr74Ile) single nucleotide variant not provided [RCV001757375] Chr14:73170930 [GRCh38]
Chr14:73637638 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.427_429del (p.Ile143del) deletion not provided [RCV001757547] Chr14:73173654..73173656 [GRCh38]
Chr14:73640362..73640364 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) single nucleotide variant Alzheimer disease 3 [RCV001810075]|Alzheimer disease 3 [RCV002568920]|not provided [RCV002473293] Chr14:73198043 [GRCh38]
Chr14:73664751 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.1247T>C (p.Ile416Thr) single nucleotide variant Alzheimer disease 3 [RCV001810076] Chr14:73217243 [GRCh38]
Chr14:73683951 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val) single nucleotide variant Alzheimer disease 3 [RCV001810077]|Alzheimer disease 3 [RCV001873794] Chr14:73219164 [GRCh38]
Chr14:73685872 [GRCh37]
Chr14:14q24.2		 benign|uncertain significance
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln) single nucleotide variant Alzheimer disease 3 [RCV001987911]|Inborn genetic diseases [RCV003170116] Chr14:73173594 [GRCh38]
Chr14:73640302 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.118_120del (p.Asp40del) deletion Alzheimer disease 3 [RCV002004172]|PSEN1-related disorder [RCV003395351] Chr14:73170825..73170827 [GRCh38]
Chr14:73637533..73637535 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) single nucleotide variant Alzheimer disease 3 [RCV002043451]|Alzheimer disease 3 [RCV002486747]|PSEN1-related disorder [RCV003913489]|not provided [RCV004694150] Chr14:73219262 [GRCh38]
Chr14:73685970 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys) single nucleotide variant Alzheimer disease 3 [RCV001965128] Chr14:73206472 [GRCh38]
Chr14:73673180 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.918A>C (p.Gln306His) single nucleotide variant Alzheimer disease 3 [RCV001968059] Chr14:73206435 [GRCh38]
Chr14:73673143 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg) single nucleotide variant Alzheimer disease 3 [RCV001871297]|Alzheimer disease 3 [RCV003989727]|PSEN1-related disorder [RCV003976248]|not specified [RCV003994347] Chr14:73206449 [GRCh38]
Chr14:73673157 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys) single nucleotide variant Alzheimer disease 3 [RCV001949489] Chr14:73198099 [GRCh38]
Chr14:73664807 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg) single nucleotide variant Alzheimer disease 3 [RCV001910054] Chr14:73211816 [GRCh38]
Chr14:73678524 [GRCh37]
Chr14:14q24.2		 uncertain significance
GRCh37/hg19 14q24.2(chr14:73336295-73666940)x3 copy number gain not provided [RCV001836504] Chr14:73336295..73666940 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe) single nucleotide variant Alzheimer disease 3 [RCV002037964] Chr14:73192845 [GRCh38]
Chr14:73659553 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile) single nucleotide variant Alzheimer disease 3 [RCV001961930] Chr14:73192666 [GRCh38]
Chr14:73659374 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe) single nucleotide variant Alzheimer disease 3 [RCV001980594] Chr14:73192840 [GRCh38]
Chr14:73659548 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.640C>A (p.His214Asn) single nucleotide variant Alzheimer disease 3 [RCV001900646]|not provided [RCV004762214] Chr14:73192735 [GRCh38]
Chr14:73659443 [GRCh37]
Chr14:14q24.2		 pathogenic|uncertain significance
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu) single nucleotide variant Alzheimer disease 3 [RCV001864898] Chr14:73211894 [GRCh38]
Chr14:73678602 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr) single nucleotide variant Alzheimer disease 3 [RCV001917495] Chr14:73192655 [GRCh38]
Chr14:73659363 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.869-3C>A single nucleotide variant Alzheimer disease 3 [RCV001875732] Chr14:73206383 [GRCh38]
Chr14:73673091 [GRCh37]
Chr14:14q24.2		 uncertain significance
NC_000014.8:g.(?_73673074)_(73673200_?)del deletion Alzheimer disease 3 [RCV001958815] Chr14:73673074..73673200 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala) single nucleotide variant Alzheimer disease 3 [RCV001938686] Chr14:73173597 [GRCh38]
Chr14:73640305 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val) single nucleotide variant Alzheimer disease 3 [RCV001878087] Chr14:73173669 [GRCh38]
Chr14:73640377 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp) single nucleotide variant Alzheimer disease 3 [RCV002014803] Chr14:73211942 [GRCh38]
Chr14:73678650 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser) single nucleotide variant Alzheimer disease 3 [RCV002148365]|not specified [RCV004690257] Chr14:73211876 [GRCh38]
Chr14:73678584 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.177C>T (p.Ser59=) single nucleotide variant Alzheimer disease 3 [RCV002110042] Chr14:73170886 [GRCh38]
Chr14:73637594 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.88-2A>G single nucleotide variant not provided [RCV002224675] Chr14:73170795 [GRCh38]
Chr14:73637503 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala) single nucleotide variant Alzheimer disease 3 [RCV002088756]|Inborn genetic diseases [RCV003007081] Chr14:73170854 [GRCh38]
Chr14:73637562 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.501T>C (p.Ile167=) single nucleotide variant Alzheimer disease 3 [RCV002211723] Chr14:73186873 [GRCh38]
Chr14:73653581 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=) single nucleotide variant Alzheimer disease 3 [RCV002152736] Chr14:73219232 [GRCh38]
Chr14:73685940 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.549-4dup duplication Alzheimer disease 3 [RCV002213215] Chr14:73192632..73192633 [GRCh38]
Chr14:73659340..73659341 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.909G>A (p.Pro303=) single nucleotide variant Alzheimer disease 3 [RCV002095667]|PSEN1-related disorder [RCV003968878] Chr14:73206426 [GRCh38]
Chr14:73673134 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.801A>G (p.Pro267=) single nucleotide variant Alzheimer disease 3 [RCV002114861] Chr14:73198062 [GRCh38]
Chr14:73664770 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.213G>A (p.Glu71=) single nucleotide variant Alzheimer disease 3 [RCV002159689] Chr14:73170922 [GRCh38]
Chr14:73637630 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.549-19C>A single nucleotide variant Alzheimer disease 3 [RCV002162588] Chr14:73192625 [GRCh38]
Chr14:73659333 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.956-20A>C single nucleotide variant Alzheimer disease 3 [RCV002098681] Chr14:73211749 [GRCh38]
Chr14:73678457 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.480+17G>A single nucleotide variant Alzheimer disease 3 [RCV002177731] Chr14:73173724 [GRCh38]
Chr14:73640432 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.459G>T (p.Leu153=) single nucleotide variant Alzheimer disease 3 [RCV002200941] Chr14:73173686 [GRCh38]
Chr14:73640394 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn) single nucleotide variant Alzheimer disease 3 [RCV003112298] Chr14:73192861 [GRCh38]
Chr14:73659569 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.935A>C (p.Asn312Thr) single nucleotide variant not provided [RCV003156602] Chr14:73206452 [GRCh38]
Chr14:73673160 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del) microsatellite Alzheimer disease 3 [RCV002289018]|Alzheimer disease 3 [RCV003097769] Chr14:73186876..73186878 [GRCh38]
Chr14:73653584..73653586 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.1129+113T>C single nucleotide variant not provided [RCV002285742] Chr14:73212055 [GRCh38]
Chr14:73678763 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.956-217_956-216insA insertion not provided [RCV002286080] Chr14:73211552..73211553 [GRCh38]
Chr14:73678260..73678261 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.808A>G (p.Met270Val) single nucleotide variant Alzheimer disease 3 [RCV003774964]|Frontotemporal dementia [RCV002290176] Chr14:73198069 [GRCh38]
Chr14:73664777 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1163T>C (p.Phe388Ser) single nucleotide variant Alzheimer disease 3 [RCV002283631] Chr14:73217159 [GRCh38]
Chr14:73683867 [GRCh37]
Chr14:14q24.2		 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_000021.4(PSEN1):c.308T>A (p.Val103Asp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV002471826] Chr14:73171017 [GRCh38]
Chr14:73637725 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.519G>T (p.Leu173Phe) single nucleotide variant not provided [RCV002474267] Chr14:73186891 [GRCh38]
Chr14:73653599 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile) single nucleotide variant Alzheimer disease 3 [RCV002569397]|not provided [RCV002474302] Chr14:73217180 [GRCh38]
Chr14:73683888 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.496C>T (p.Leu166Phe) single nucleotide variant not provided [RCV002474390] Chr14:73186868 [GRCh38]
Chr14:73653576 [GRCh37]
Chr14:14q24.2		 likely pathogenic
GRCh37/hg19 14q24.2(chr14:73216923-73758752)x3 copy number gain not provided [RCV002472783] Chr14:73216923..73758752 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe) single nucleotide variant Alzheimer disease 3 [RCV003014654] Chr14:73211907 [GRCh38]
Chr14:73678615 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=) single nucleotide variant Alzheimer disease 3 [RCV003014952] Chr14:73219271 [GRCh38]
Chr14:73685979 [GRCh37]
Chr14:14q24.2		 benign
NM_000021.4(PSEN1):c.792G>A (p.Pro264=) single nucleotide variant Alzheimer disease 3 [RCV002726172] Chr14:73198053 [GRCh38]
Chr14:73664761 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.426C>T (p.Val142=) single nucleotide variant Alzheimer disease 3 [RCV002974992] Chr14:73173653 [GRCh38]
Chr14:73640361 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.87+11_87+14dup duplication Alzheimer disease 3 [RCV002846845] Chr14:73148113..73148114 [GRCh38]
Chr14:73614821..73614822 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys) single nucleotide variant Alzheimer disease 3 [RCV003037455] Chr14:73192645 [GRCh38]
Chr14:73659353 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile) single nucleotide variant Alzheimer disease 3 [RCV002780497] Chr14:73206393 [GRCh38]
Chr14:73673101 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr) single nucleotide variant Alzheimer disease 3 [RCV002923030] Chr14:73217219 [GRCh38]
Chr14:73683927 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile) single nucleotide variant Alzheimer disease 3 [RCV002824042] Chr14:73170961 [GRCh38]
Chr14:73637669 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val) single nucleotide variant Alzheimer disease 3 [RCV003021319] Chr14:73173579 [GRCh38]
Chr14:73640287 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1071A>G (p.Ser357=) single nucleotide variant Alzheimer disease 3 [RCV002637618]|PSEN1-related disorder [RCV003906559] Chr14:73211884 [GRCh38]
Chr14:73678592 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys) single nucleotide variant Alzheimer disease 3 [RCV003057230] Chr14:73206453 [GRCh38]
Chr14:73673161 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser) single nucleotide variant Alzheimer disease 3 [RCV002876347]|not provided [RCV003222446] Chr14:73170983 [GRCh38]
Chr14:73637691 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.481-13C>T single nucleotide variant Alzheimer disease 3 [RCV002624440] Chr14:73186840 [GRCh38]
Chr14:73653548 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser) single nucleotide variant Alzheimer disease 3 [RCV002711664] Chr14:73170832 [GRCh38]
Chr14:73637540 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala) single nucleotide variant Alzheimer disease 3 [RCV002917221] Chr14:73206388 [GRCh38]
Chr14:73673096 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.234C>A (p.Gly78=) single nucleotide variant Alzheimer disease 3 [RCV002766185] Chr14:73170943 [GRCh38]
Chr14:73637651 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.774A>G (p.Leu258=) single nucleotide variant Alzheimer disease 3 [RCV002623943]|PSEN1-related disorder [RCV003946324] Chr14:73198035 [GRCh38]
Chr14:73664743 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met) single nucleotide variant Alzheimer disease 3 [RCV002625228] Chr14:73198103 [GRCh38]
Chr14:73664811 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=) single nucleotide variant Alzheimer disease 3 [RCV003056903] Chr14:73192863 [GRCh38]
Chr14:73659571 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val) single nucleotide variant Alzheimer disease 3 [RCV002918620] Chr14:73192774 [GRCh38]
Chr14:73659482 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.177C>A (p.Ser59=) single nucleotide variant Alzheimer disease 3 [RCV002599803] Chr14:73170886 [GRCh38]
Chr14:73637594 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.537C>T (p.Phe179=) single nucleotide variant Alzheimer disease 3 [RCV002633109] Chr14:73186909 [GRCh38]
Chr14:73653617 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly) deletion Alzheimer disease 3 [RCV002856793] Chr14:73171017..73171019 [GRCh38]
Chr14:73637725..73637727 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu) single nucleotide variant Alzheimer disease 3 [RCV002966311] Chr14:73192774 [GRCh38]
Chr14:73659482 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His) single nucleotide variant Alzheimer disease 3 [RCV003026832] Chr14:73173693 [GRCh38]
Chr14:73640401 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly) single nucleotide variant Alzheimer disease 3 [RCV003777888]|Inborn genetic diseases [RCV002896115] Chr14:73170833 [GRCh38]
Chr14:73637541 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.392A>G (p.His131Arg) single nucleotide variant Alzheimer disease 3 [RCV003062641] Chr14:73173619 [GRCh38]
Chr14:73640327 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val) single nucleotide variant Alzheimer disease 3 [RCV003062642] Chr14:73173654 [GRCh38]
Chr14:73640362 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro) single nucleotide variant Alzheimer disease 3 [RCV002601742] Chr14:73198106 [GRCh38]
Chr14:73664814 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.955+16T>G single nucleotide variant Alzheimer disease 3 [RCV003009253] Chr14:73206488 [GRCh38]
Chr14:73673196 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1130-13del deletion Alzheimer disease 3 [RCV003087447] Chr14:73217112 [GRCh38]
Chr14:73683820 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe) single nucleotide variant Alzheimer disease 3 [RCV003062643] Chr14:73173703 [GRCh38]
Chr14:73640411 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet) duplication Alzheimer disease 3 [RCV002721819] Chr14:73198068..73198069 [GRCh38]
Chr14:73664776..73664777 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.906C>T (p.Asp302=) single nucleotide variant Alzheimer disease 3 [RCV002721491] Chr14:73206423 [GRCh38]
Chr14:73673131 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1107C>T (p.Leu369=) single nucleotide variant Alzheimer disease 3 [RCV002610703] Chr14:73211920 [GRCh38]
Chr14:73678628 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1301C>T (p.Ala434Val) single nucleotide variant Alzheimer disease 3 [RCV003159278] Chr14:73219186 [GRCh38]
Chr14:73685894 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser) single nucleotide variant Alzheimer disease 3 [RCV003777345]|not specified [RCV003324115] Chr14:73170804 [GRCh38]
Chr14:73637512 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.832A>G (p.Arg278Gly) single nucleotide variant Alzheimer disease 3 [RCV003320398] Chr14:73198093 [GRCh38]
Chr14:73664801 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val) single nucleotide variant Alzheimer disease 3 [RCV003337771]|Alzheimer disease 3 [RCV003777435] Chr14:73217152 [GRCh38]
Chr14:73683860 [GRCh37]
Chr14:14q24.2		 uncertain significance
NC_000014.9:g.73133653A>G single nucleotide variant not provided [RCV002276382] Chr14:73133653 [GRCh38]
Chr14:73600361 [GRCh37]
Chr14:14q24.2		 likely benign|uncertain significance
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly) single nucleotide variant Alzheimer disease 3 [RCV003779232]|not provided [RCV003482814] Chr14:73198040 [GRCh38]
Chr14:73664748 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
GRCh37/hg19 14q24.2-24.3(chr14:72984321-73975604)x3 copy number gain not provided [RCV003485041] Chr14:72984321..73975604 [GRCh37]
Chr14:14q24.2-24.3		 uncertain significance
NM_000021.4(PSEN1):c.691G>T (p.Ala231Ser) single nucleotide variant PSEN1-related disorder [RCV003408353] Chr14:73192786 [GRCh38]
Chr14:73659494 [GRCh37]
Chr14:14q24.2		 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 14q24.2(chr14:73285307-73708676)x3 copy number gain not provided [RCV003485042] Chr14:73285307..73708676 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.255C>G (p.Leu85=) single nucleotide variant not provided [RCV003400616] Chr14:73170964 [GRCh38]
Chr14:73637672 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.697A>C (p.Met233Leu) single nucleotide variant not provided [RCV003482813] Chr14:73192792 [GRCh38]
Chr14:73659500 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.42A>C (p.Ala14=) single nucleotide variant not provided [RCV003400615] Chr14:73148061 [GRCh38]
Chr14:73614769 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1156T>A (p.Phe386Ile) single nucleotide variant PSEN1-related disorder [RCV003416838] Chr14:73217152 [GRCh38]
Chr14:73683860 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.252G>T (p.Met84Ile) single nucleotide variant PSEN1-related disorder [RCV003397808] Chr14:73170961 [GRCh38]
Chr14:73637669 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.471G>T (p.Arg157Ser) single nucleotide variant PSEN1-related disorder [RCV003421004] Chr14:73173698 [GRCh38]
Chr14:73640406 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.869-2A>G single nucleotide variant Alzheimer disease 3 [RCV003783617] Chr14:73206384 [GRCh38]
Chr14:73673092 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.548+13A>G single nucleotide variant Alzheimer disease 3 [RCV003789110] Chr14:73186933 [GRCh38]
Chr14:73653641 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu) single nucleotide variant Alzheimer disease 3 [RCV003786399] Chr14:73192687 [GRCh38]
Chr14:73659395 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala) single nucleotide variant Alzheimer disease 3 [RCV003785387]|Alzheimer disease 3 [RCV003994584] Chr14:73219191 [GRCh38]
Chr14:73685899 [GRCh37]
Chr14:14q24.2		 likely pathogenic|uncertain significance
NM_000021.4(PSEN1):c.250A>G (p.Met84Val) single nucleotide variant Alzheimer disease 3 [RCV003783616] Chr14:73170959 [GRCh38]
Chr14:73637667 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp) single nucleotide variant Alzheimer disease 3 [RCV003791763] Chr14:73186863 [GRCh38]
Chr14:73653571 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1055G>A (p.Arg352His) single nucleotide variant Alzheimer disease 3 [RCV003783129] Chr14:73211868 [GRCh38]
Chr14:73678576 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1132G>A (p.Gly378Arg) single nucleotide variant not specified [RCV003490786] Chr14:73217128 [GRCh38]
Chr14:73683836 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1249-6C>A single nucleotide variant Alzheimer disease 3 [RCV003782434] Chr14:73219128 [GRCh38]
Chr14:73685836 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=) single nucleotide variant Alzheimer disease 3 [RCV003796035]|PSEN1-related disorder [RCV003966675] Chr14:73173695 [GRCh38]
Chr14:73640403 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.255C>A (p.Leu85=) single nucleotide variant Alzheimer disease 3 [RCV003786172] Chr14:73170964 [GRCh38]
Chr14:73637672 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1005G>T (p.Gly335=) single nucleotide variant Alzheimer disease 3 [RCV003788186] Chr14:73211818 [GRCh38]
Chr14:73678526 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.868+16_868+21del deletion Alzheimer disease 3 [RCV003786281] Chr14:73198145..73198150 [GRCh38]
Chr14:73664853..73664858 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln) single nucleotide variant Alzheimer disease 3 [RCV003785970] Chr14:73171032 [GRCh38]
Chr14:73637740 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln) single nucleotide variant Alzheimer disease 3 [RCV003783494] Chr14:73211900 [GRCh38]
Chr14:73678608 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.480+20C>T single nucleotide variant Alzheimer disease 3 [RCV003783555] Chr14:73173727 [GRCh38]
Chr14:73640435 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.338+22T>C single nucleotide variant not specified [RCV003995088] Chr14:73171069 [GRCh38]
Chr14:73637777 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser) single nucleotide variant Alzheimer disease 3 [RCV003810587] Chr14:73206412 [GRCh38]
Chr14:73673120 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu) single nucleotide variant Alzheimer disease 3 [RCV003809316] Chr14:73206425 [GRCh38]
Chr14:73673133 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.955+11T>G single nucleotide variant Alzheimer disease 3 [RCV003810413] Chr14:73206483 [GRCh38]
Chr14:73673191 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1272C>G (p.Leu424=) single nucleotide variant PSEN1-related disorder [RCV003939274]|not provided [RCV003884891] Chr14:73219157 [GRCh38]
Chr14:73685865 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu) single nucleotide variant Alzheimer disease 3 [RCV003802480] Chr14:73170965 [GRCh38]
Chr14:73637673 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1381G>T (p.Ala461Ser) single nucleotide variant Inborn genetic diseases [RCV004513090] Chr14:73219266 [GRCh38]
Chr14:73685974 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.223T>C (p.Leu75=) single nucleotide variant PSEN1-related disorder [RCV003981986] Chr14:73170932 [GRCh38]
Chr14:73637640 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1142T>A (p.Leu381His) single nucleotide variant PSEN1-related disorder [RCV003949215] Chr14:73217138 [GRCh38]
Chr14:73683846 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.956-10T>C single nucleotide variant PSEN1-related disorder [RCV003896762] Chr14:73211759 [GRCh38]
Chr14:73678467 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.*10G>A single nucleotide variant PSEN1-related disorder [RCV003911534] Chr14:73219299 [GRCh38]
Chr14:73686007 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.1248+7A>G single nucleotide variant PSEN1-related disorder [RCV003954649] Chr14:73217251 [GRCh38]
Chr14:73683959 [GRCh37]
Chr14:14q24.2		 likely benign
NM_000021.4(PSEN1):c.438G>C (p.Met146Ile) single nucleotide variant Alzheimer disease 3 [RCV004525816] Chr14:73173665 [GRCh38]
Chr14:73640373 [GRCh37]
Chr14:14q24.2		 not provided
NM_000021.4(PSEN1):c.118G>A (p.Asp40Asn) single nucleotide variant not specified [RCV004587967] Chr14:73170827 [GRCh38]
Chr14:73637535 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1333T>G (p.Phe445Val) single nucleotide variant not provided [RCV004575980] Chr14:73219218 [GRCh38]
Chr14:73685926 [GRCh37]
Chr14:14q24.2		 uncertain significance
NC_000014.8:g.(?_73683814)_(73685997_?)dup duplication Alzheimer disease 3 [RCV004578094] Chr14:73683814..73685997 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.943T>C (p.Tyr315His) single nucleotide variant Inborn genetic diseases [RCV004657649] Chr14:73206460 [GRCh38]
Chr14:73673168 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.1309A>T (p.Ile437Phe) single nucleotide variant not provided [RCV004759906]   uncertain significance
NM_000021.4(PSEN1):c.437T>C (p.Met146Thr) single nucleotide variant Alzheimer disease 3 [RCV004701153] Chr14:73173664 [GRCh38]
Chr14:73640372 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.298A>C (p.Ile100Leu) single nucleotide variant not specified [RCV004766532] Chr14:73171007 [GRCh38]
Chr14:73637715 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.121A>G (p.Arg41Gly) single nucleotide variant not provided [RCV004772150] Chr14:73170830 [GRCh38]
Chr14:73637538 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.508T>C (p.Ser170Pro) single nucleotide variant not provided [RCV004722018] Chr14:73186880 [GRCh38]
Chr14:73653588 [GRCh37]
Chr14:14q24.2		 pathogenic
NM_000021.4(PSEN1):c.632T>C (p.Ile211Thr) single nucleotide variant not specified [RCV004702859] Chr14:73192727 [GRCh38]
Chr14:73659435 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.163C>A (p.Pro55Thr) single nucleotide variant not specified [RCV004703152] Chr14:73170872 [GRCh38]
Chr14:73637580 [GRCh37]
Chr14:14q24.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6756
Count of miRNA genes:1320
Interacting mature miRNAs:1694
Transcripts:ENST00000261970, ENST00000324501, ENST00000344094, ENST00000357710, ENST00000394157, ENST00000394164, ENST00000406768, ENST00000553447, ENST00000553599, ENST00000553719, ENST00000553855, ENST00000554131, ENST00000554995, ENST00000555254, ENST00000555386, ENST00000555867, ENST00000556011, ENST00000556066, ENST00000556533, ENST00000556864, ENST00000556951, ENST00000557037, ENST00000557293, ENST00000557356, ENST00000557511, ENST00000559361, ENST00000560005
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407059905GWAS708881_Hapolipoprotein B measurement QTL GWAS708881 (human)1e-08apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)147314938773149388Human
407112646GWAS761622_Hmathematical ability QTL GWAS761622 (human)1e-08mathematical ability147319142973191430Human
407274750GWAS923726_Hbody height QTL GWAS923726 (human)2e-11body height (VT:0001253)body height (CMO:0000106)147316302473163025Human
407052443GWAS701419_Htyrosine measurement QTL GWAS701419 (human)0.000001tyrosine measurement147318046673180467Human
407400227GWAS1049203_HHbA1c measurement QTL GWAS1049203 (human)4e-11HbA1c measurementblood hemoglobin A1c level (CMO:0002786)147314938773149388Human
407344106GWAS993082_Hrenal carcinoma QTL GWAS993082 (human)5e-09renal carcinoma147320775073207751Human
407086333GWAS735309_Hobsolete_red blood cell distribution width QTL GWAS735309 (human)4e-15obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)147320249873202499Human

Markers in Region
D14S43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,943,685 - 74,943,869UniSTSGRCh37
Build 361474,013,438 - 74,013,622RGDNCBI36
Celera1454,982,072 - 54,982,256RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,112,163 - 55,112,321UniSTS
Marshfield Genetic Map1484.16UniSTS
Marshfield Genetic Map1484.16RGD
Whitehead-YAC Contig Map14 UniSTS
G38136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,613,349 - 73,613,545UniSTSGRCh37
Build 361472,683,102 - 72,683,298RGDNCBI36
Celera1453,676,631 - 53,676,827RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,779,025 - 53,779,221UniSTS
G38218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,618,035 - 73,618,231UniSTSGRCh37
Build 361472,687,788 - 72,687,984RGDNCBI36
Celera1453,681,316 - 53,681,512RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,783,711 - 53,783,907UniSTS
G38175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,635,316 - 73,635,574UniSTSGRCh37
Build 361472,705,069 - 72,705,327RGDNCBI36
Celera1453,698,595 - 53,698,853RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,801,074 - 53,801,332UniSTS
G38215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,611,092 - 73,611,344UniSTSGRCh37
Build 361472,680,845 - 72,681,097RGDNCBI36
Celera1453,674,374 - 53,674,626RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,776,769 - 53,777,021UniSTS
G38068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,616,490 - 73,616,740UniSTSGRCh37
Build 361472,686,243 - 72,686,493RGDNCBI36
Celera1453,679,772 - 53,680,022RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,782,167 - 53,782,417UniSTS
SHGC-78932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,639,753 - 73,640,052UniSTSGRCh37
Build 361472,709,506 - 72,709,805RGDNCBI36
Celera1453,703,032 - 53,703,331RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,805,511 - 53,805,810UniSTS
D14S1438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,640,288 - 73,640,468UniSTSGRCh37
Build 361472,710,041 - 72,710,221RGDNCBI36
Celera1453,703,567 - 53,703,747RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,806,046 - 53,806,226UniSTS
D14S1439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,653,502 - 73,653,730UniSTSGRCh37
Build 361472,723,255 - 72,723,483RGDNCBI36
Celera1453,716,733 - 53,716,961RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,818,953 - 53,819,181UniSTS
D14S1440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,659,462 - 73,659,565UniSTSGRCh37
Build 361472,729,215 - 72,729,318RGDNCBI36
Celera1453,722,693 - 53,722,796RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,824,913 - 53,825,016UniSTS
D14S1442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,683,907 - 73,684,122UniSTSGRCh37
Build 361472,753,660 - 72,753,875RGDNCBI36
Celera1453,747,138 - 53,747,353RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,849,419 - 53,849,634UniSTS
D14S1264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,655,166 - 73,655,266UniSTSGRCh37
Build 361472,724,919 - 72,725,019RGDNCBI36
Celera1453,718,397 - 53,718,497RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,820,617 - 53,820,717UniSTS
G38220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,635,503 - 73,635,664UniSTSGRCh37
GRCh37532,978,411 - 32,978,643UniSTSGRCh37
Build 36533,014,168 - 33,014,400RGDNCBI36
Celera1453,698,782 - 53,698,943UniSTS
Celera532,860,015 - 32,860,247RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,801,261 - 53,801,422UniSTS
HuRef532,947,631 - 32,947,863UniSTS
G38066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,680,145 - 73,680,345UniSTSGRCh37
Build 361472,749,898 - 72,750,098RGDNCBI36
Celera1453,743,376 - 53,743,576RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,845,657 - 53,845,857UniSTS
SHGC-132632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,690,075 - 73,690,365UniSTSGRCh37
Build 361472,759,828 - 72,760,118RGDNCBI36
Celera1453,753,308 - 53,753,598RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,855,589 - 53,855,879UniSTS
TNG Radiation Hybrid Map1426432.0UniSTS
PSEN1_232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,686,255 - 73,687,100UniSTSGRCh37
Build 361472,756,008 - 72,756,853RGDNCBI36
Celera1453,749,488 - 53,750,333RGD
HuRef1453,851,769 - 53,852,614UniSTS
SHGC-36769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,690,246 - 73,690,377UniSTSGRCh37
Build 361472,759,999 - 72,760,130RGDNCBI36
Celera1453,753,479 - 53,753,610RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,855,760 - 53,855,891UniSTS
GeneMap99-G3 RH Map142702.0UniSTS
G35565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,646,397 - 73,646,577UniSTSGRCh37
Build 361472,716,150 - 72,716,330RGDNCBI36
Celera1453,709,676 - 53,709,856RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,812,155 - 53,812,335UniSTS
SHGC-31609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,686,086 - 73,686,287UniSTSGRCh37
Build 361472,755,839 - 72,756,040RGDNCBI36
Celera1453,749,319 - 53,749,520RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,851,600 - 53,851,801UniSTS
TNG Radiation Hybrid Map1426432.0UniSTS
Stanford-G3 RH Map142660.0UniSTS
GeneMap99-GB4 RH Map14191.19UniSTS
Whitehead-RH Map14258.8UniSTS
NCBI RH Map14771.7UniSTS
GeneMap99-G3 RH Map142708.0UniSTS
G38198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,645,908 - 73,646,009UniSTSGRCh37
Build 361472,715,661 - 72,715,762RGDNCBI36
Celera1453,709,187 - 53,709,288RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,811,666 - 53,811,767UniSTS
G35665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,623,230 - 73,623,326UniSTSGRCh37
Build 361472,692,983 - 72,693,079RGDNCBI36
Celera1453,686,511 - 53,686,607RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,788,993 - 53,789,089UniSTS
G38129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,604,805 - 73,604,885UniSTSGRCh37
Build 361472,674,558 - 72,674,638RGDNCBI36
Celera1453,668,091 - 53,668,171RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,770,486 - 53,770,566UniSTS
G38324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,613,222 - 73,613,379UniSTSGRCh37
Build 361472,682,975 - 72,683,132RGDNCBI36
Celera1453,676,504 - 53,676,661RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,778,898 - 53,779,055UniSTS
G35501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,649,700 - 73,649,823UniSTSGRCh37
Build 361472,719,453 - 72,719,576RGDNCBI36
Celera1453,712,979 - 53,713,102RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,815,458 - 53,815,581UniSTS
WI-11404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,679,948 - 73,680,097UniSTSGRCh37
Build 361472,749,701 - 72,749,850RGDNCBI36
Celera1453,743,179 - 53,743,328RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,845,460 - 53,845,609UniSTS
GeneMap99-GB4 RH Map14189.67UniSTS
Whitehead-RH Map14259.0UniSTS
NCBI RH Map14818.9UniSTS
G38176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,608,298 - 73,608,454UniSTSGRCh37
Build 361472,678,051 - 72,678,207RGDNCBI36
Celera1453,671,580 - 53,671,736RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,773,975 - 53,774,131UniSTS
A005E05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,690,147 - 73,690,287UniSTSGRCh37
Build 361472,759,900 - 72,760,040RGDNCBI36
Celera1453,753,380 - 53,753,520RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,855,661 - 53,855,801UniSTS
GeneMap99-GB4 RH Map14191.19UniSTS
Whitehead-RH Map14258.8UniSTS
RH77790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,654,231 - 73,654,380UniSTSGRCh37
Build 361472,723,984 - 72,724,133RGDNCBI36
Celera1453,717,462 - 53,717,611RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,819,682 - 53,819,831UniSTS
GeneMap99-GB4 RH Map14187.83UniSTS
NCBI RH Map14803.2UniSTS
SGC34362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,654,356 - 73,654,455UniSTSGRCh37
Build 361472,724,109 - 72,724,208RGDNCBI36
Celera1453,717,587 - 53,717,686RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,819,807 - 53,819,906UniSTS
GeneMap99-GB4 RH Map14183.36UniSTS
Whitehead-RH Map14257.6UniSTS
NCBI RH Map14816.7UniSTS
G38323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,689,786 - 73,690,054UniSTSGRCh37
Build 361472,759,539 - 72,759,807RGDNCBI36
Celera1453,753,019 - 53,753,287RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,855,300 - 53,855,568UniSTS
G38182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,627,985 - 73,628,134UniSTSGRCh37
Build 361472,697,738 - 72,697,887RGDNCBI36
Celera1453,691,267 - 53,691,416RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,793,744 - 53,793,893UniSTS
G38272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,680,897 - 73,681,062UniSTSGRCh37
Build 361472,750,650 - 72,750,815RGDNCBI36
Celera1453,744,128 - 53,744,293RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,846,409 - 53,846,574UniSTS
G38184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,687,932 - 73,688,181UniSTSGRCh37
Build 361472,757,685 - 72,757,934RGDNCBI36
Celera1453,751,165 - 53,751,414RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,853,446 - 53,853,695UniSTS
G38203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,625,964 - 73,626,131UniSTSGRCh37
Build 361472,695,717 - 72,695,884RGDNCBI36
Celera1453,689,245 - 53,689,412RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,791,722 - 53,791,889UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
G38133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,604,656 - 73,605,807UniSTSGRCh37
Celera1453,667,942 - 53,669,089UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef1453,770,337 - 53,771,485UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB159776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF109907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF416717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ008005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW069286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX244146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX244648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D84149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA670846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB075605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB203403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB312308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT120062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT120063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT120064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT120065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT120066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT120067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT599439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT599440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L42110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L76517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC756953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000324501   ⟹   ENSP00000326366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,691 (+)Ensembl
Ensembl Acc Id: ENST00000357710   ⟹   ENSP00000350342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,447 - 73,220,401 (+)Ensembl
Ensembl Acc Id: ENST00000394157   ⟹   ENSP00000377712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,447 - 73,174,204 (+)Ensembl
Ensembl Acc Id: ENST00000394164   ⟹   ENSP00000377719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,817 - 73,220,401 (+)Ensembl
Ensembl Acc Id: ENST00000406768   ⟹   ENSP00000385948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,167,829 - 73,220,401 (+)Ensembl
Ensembl Acc Id: ENST00000553447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,477 - 73,173,707 (+)Ensembl
Ensembl Acc Id: ENST00000553599   ⟹   ENSP00000452477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,445 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000553719   ⟹   ENSP00000451674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,444 - 73,173,680 (+)Ensembl
Ensembl Acc Id: ENST00000553855   ⟹   ENSP00000452242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,148,020 - 73,217,158 (+)Ensembl
Ensembl Acc Id: ENST00000554131   ⟹   ENSP00000451915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,496 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000554995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,196,512 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000555254   ⟹   ENSP00000450652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,456 - 73,173,694 (+)Ensembl
Ensembl Acc Id: ENST00000555386   ⟹   ENSP00000450845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,219,289 (+)Ensembl
Ensembl Acc Id: ENST00000555867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,206,153 - 73,219,396 (+)Ensembl
Ensembl Acc Id: ENST00000556011   ⟹   ENSP00000451662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,447 - 73,173,707 (+)Ensembl
Ensembl Acc Id: ENST00000556066   ⟹   ENSP00000452267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,492 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000556533   ⟹   ENSP00000452128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,435 - 73,170,998 (+)Ensembl
Ensembl Acc Id: ENST00000556864   ⟹   ENSP00000451588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,435 - 73,170,912 (+)Ensembl
Ensembl Acc Id: ENST00000556951   ⟹   ENSP00000450551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,436 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000557037   ⟹   ENSP00000451347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,541 - 73,170,909 (+)Ensembl
Ensembl Acc Id: ENST00000557293   ⟹   ENSP00000451880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,437 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000557356   ⟹   ENSP00000451498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,418 - 73,173,644 (+)Ensembl
Ensembl Acc Id: ENST00000557511   ⟹   ENSP00000451429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,148,020 - 73,219,289 (+)Ensembl
Ensembl Acc Id: ENST00000559361   ⟹   ENSP00000454156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,518 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000560005   ⟹   ENSP00000453466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,171,050 (+)Ensembl
Ensembl Acc Id: ENST00000697912   ⟹   ENSP00000513477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000697913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,465 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000697914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,171,923 (+)Ensembl
Ensembl Acc Id: ENST00000697915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,216,640 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700265   ⟹   ENSP00000514901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,424 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700266   ⟹   ENSP00000514902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,427 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700267   ⟹   ENSP00000514903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,427 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700268   ⟹   ENSP00000514904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,439 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700269   ⟹   ENSP00000514905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,445 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,207,255 (+)Ensembl
Ensembl Acc Id: ENST00000700271   ⟹   ENSP00000514906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700272   ⟹   ENSP00000514907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700273   ⟹   ENSP00000514908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,453 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700302   ⟹   ENSP00000514929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,453 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700303   ⟹   ENSP00000514930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,453 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700304   ⟹   ENSP00000514931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,461 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700305   ⟹   ENSP00000514932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,461 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700306   ⟹   ENSP00000514933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,472 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700307   ⟹   ENSP00000514934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,477 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700308   ⟹   ENSP00000514935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,487 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700309   ⟹   ENSP00000514936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,487 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700310   ⟹   ENSP00000514937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700311   ⟹   ENSP00000514938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700312   ⟹   ENSP00000514939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700313   ⟹   ENSP00000514940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700314   ⟹   ENSP00000514941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700315   ⟹   ENSP00000514942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700316   ⟹   ENSP00000514943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700317   ⟹   ENSP00000514944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700318   ⟹   ENSP00000514945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700319   ⟹   ENSP00000514946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700320   ⟹   ENSP00000514947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700321   ⟹   ENSP00000514948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700322   ⟹   ENSP00000514949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,509 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700323   ⟹   ENSP00000514950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,509 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700324   ⟹   ENSP00000514951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,530 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,461 - 73,161,941 (+)Ensembl
Ensembl Acc Id: ENST00000700375   ⟹   ENSP00000514966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,543 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,763 - 73,193,132 (+)Ensembl
Ensembl Acc Id: ENST00000700377   ⟹   ENSP00000514967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,763 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700378   ⟹   ENSP00000514968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,763 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,143,221 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,472 - 73,193,000 (+)Ensembl
Ensembl Acc Id: ENST00000700389   ⟹   ENSP00000514970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,472 - 73,220,504 (+)Ensembl
Ensembl Acc Id: ENST00000700390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,146,219 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,206,087 - 73,220,402 (+)Ensembl
Ensembl Acc Id: ENST00000700404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,047 - 73,223,515 (+)Ensembl
Ensembl Acc Id: ENST00000700405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,162,015 (+)Ensembl
Ensembl Acc Id: ENST00000700406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,162,016 (+)Ensembl
Ensembl Acc Id: ENST00000700407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,162,024 (+)Ensembl
Ensembl Acc Id: ENST00000700408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,163,022 (+)Ensembl
Ensembl Acc Id: ENST00000700409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,163,022 (+)Ensembl
Ensembl Acc Id: ENST00000700410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,167,866 (+)Ensembl
Ensembl Acc Id: ENST00000700430   ⟹   ENSP00000514985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,174,172 (+)Ensembl
Ensembl Acc Id: ENST00000700431   ⟹   ENSP00000514986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,174,204 (+)Ensembl
Ensembl Acc Id: ENST00000700432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,193,579 (+)Ensembl
Ensembl Acc Id: ENST00000700433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,206,850 (+)Ensembl
Ensembl Acc Id: ENST00000700434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,206,884 (+)Ensembl
Ensembl Acc Id: ENST00000700435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,213,423 (+)Ensembl
Ensembl Acc Id: ENST00000700436   ⟹   ENSP00000514987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,223,515 (+)Ensembl
Ensembl Acc Id: ENST00000700437   ⟹   ENSP00000514988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,223,547 (+)Ensembl
Ensembl Acc Id: ENST00000700467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,207,337 (+)Ensembl
Ensembl Acc Id: ENST00000700468   ⟹   ENSP00000515001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,223,515 (+)Ensembl
Ensembl Acc Id: ENST00000700469   ⟹   ENSP00000515002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,813 - 73,223,547 (+)Ensembl
RefSeq Acc Id: NM_000021   ⟹   NP_000012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
GRCh371473,603,143 - 73,690,399 (+)ENTREZGENE
GRCh371473,603,143 - 73,690,399 (+)NCBI
Build 361472,672,932 - 72,756,862 (+)NCBI Archive
HuRef1453,768,824 - 53,855,913 (+)ENTREZGENE
CHM1_11473,542,049 - 73,629,540 (+)NCBI
T2T-CHM13v2.01467,342,053 - 67,429,152 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007318   ⟹   NP_015557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
GRCh371473,603,143 - 73,690,399 (+)NCBI
HuRef1453,768,824 - 53,855,913 (+)ENTREZGENE
CHM1_11473,542,049 - 73,629,540 (+)NCBI
T2T-CHM13v2.01467,342,053 - 67,429,152 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005267864   ⟹   XP_005267921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005267866   ⟹   XP_005267923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536972   ⟹   XP_011535274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536973   ⟹   XP_011535275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536974   ⟹   XP_011535276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431600   ⟹   XP_047287556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
RefSeq Acc Id: XM_047431601   ⟹   XP_047287557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,420 - 73,223,691 (+)NCBI
RefSeq Acc Id: XM_047431602   ⟹   XP_047287558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,417 - 73,223,691 (+)NCBI
RefSeq Acc Id: XM_054376413   ⟹   XP_054232388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376414   ⟹   XP_054232389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376415   ⟹   XP_054232390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,966 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376416   ⟹   XP_054232391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376417   ⟹   XP_054232392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376418   ⟹   XP_054232393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376419   ⟹   XP_054232394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376420   ⟹   XP_054232395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,963 - 67,429,152 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000012 (Get FASTA)   NCBI Sequence Viewer  
  NP_015557 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267921 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267923 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535274 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535275 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535276 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287556 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287557 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287558 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232388 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232389 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232390 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232394 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232395 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB05894 (Get FASTA)   NCBI Sequence Viewer  
  AAB05895 (Get FASTA)   NCBI Sequence Viewer  
  AAB46370 (Get FASTA)   NCBI Sequence Viewer  
  AAB46416 (Get FASTA)   NCBI Sequence Viewer  
  AAC97960 (Get FASTA)   NCBI Sequence Viewer  
  AAF19253 (Get FASTA)   NCBI Sequence Viewer  
  AAF19254 (Get FASTA)   NCBI Sequence Viewer  
  AAH11729 (Get FASTA)   NCBI Sequence Viewer  
  AAL16811 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33743 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33744 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33745 (Get FASTA)   NCBI Sequence Viewer  
  ANN47470 (Get FASTA)   NCBI Sequence Viewer  
  ANN47471 (Get FASTA)   NCBI Sequence Viewer  
  ANN47472 (Get FASTA)   NCBI Sequence Viewer  
  ANN47473 (Get FASTA)   NCBI Sequence Viewer  
  ANN47474 (Get FASTA)   NCBI Sequence Viewer  
  ANN47475 (Get FASTA)   NCBI Sequence Viewer  
  ANN47476 (Get FASTA)   NCBI Sequence Viewer  
  ANN47477 (Get FASTA)   NCBI Sequence Viewer  
  BAA20883 (Get FASTA)   NCBI Sequence Viewer  
  BAD30017 (Get FASTA)   NCBI Sequence Viewer  
  BAD96893 (Get FASTA)   NCBI Sequence Viewer  
  BAG35430 (Get FASTA)   NCBI Sequence Viewer  
  BAH14071 (Get FASTA)   NCBI Sequence Viewer  
  BDX53016 (Get FASTA)   NCBI Sequence Viewer  
  CAA07825 (Get FASTA)   NCBI Sequence Viewer  
  CAC88544 (Get FASTA)   NCBI Sequence Viewer  
  CAC88578 (Get FASTA)   NCBI Sequence Viewer  
  CDH92546 (Get FASTA)   NCBI Sequence Viewer  
  EAW81091 (Get FASTA)   NCBI Sequence Viewer  
  EAW81092 (Get FASTA)   NCBI Sequence Viewer  
  EAW81093 (Get FASTA)   NCBI Sequence Viewer  
  EAW81094 (Get FASTA)   NCBI Sequence Viewer  
  EAW81095 (Get FASTA)   NCBI Sequence Viewer  
  EAW81096 (Get FASTA)   NCBI Sequence Viewer  
  EAW81097 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326366
  ENSP00000326366.5
  ENSP00000350342
  ENSP00000350342.4
  ENSP00000377712.3
  ENSP00000377719
  ENSP00000377719.1
  ENSP00000450551
  ENSP00000450551.1
  ENSP00000450551.2
  ENSP00000450652.1
  ENSP00000450845.1
  ENSP00000451347.1
  ENSP00000451429.1
  ENSP00000451498.1
  ENSP00000451588.1
  ENSP00000451662.2
  ENSP00000451880.2
  ENSP00000451915.1
  ENSP00000451915.2
  ENSP00000452128.1
  ENSP00000452242.1
  ENSP00000452477.1
  ENSP00000452477.2
  ENSP00000453466.1
  ENSP00000454156.1
  ENSP00000513477.1
  ENSP00000514869.1
  ENSP00000514901
  ENSP00000514901.1
  ENSP00000514902.1
  ENSP00000514903
  ENSP00000514903.1
  ENSP00000514904
  ENSP00000514904.1
  ENSP00000514905.1
  ENSP00000514906.1
  ENSP00000514907.1
  ENSP00000514908.1
  ENSP00000514929.1
  ENSP00000514930.1
  ENSP00000514931.1
  ENSP00000514932.1
  ENSP00000514933.1
  ENSP00000514934.1
  ENSP00000514935.1
  ENSP00000514936.1
  ENSP00000514937.1
  ENSP00000514938.1
  ENSP00000514939.1
  ENSP00000514940.1
  ENSP00000514941.1
  ENSP00000514942.1
  ENSP00000514943.1
  ENSP00000514944.1
  ENSP00000514945.1
  ENSP00000514946.1
  ENSP00000514947.1
  ENSP00000514948.1
  ENSP00000514949.1
  ENSP00000514950.1
  ENSP00000514951.1
  ENSP00000514966.1
  ENSP00000514967.1
  ENSP00000514968
  ENSP00000514968.1
  ENSP00000514970.1
  ENSP00000514985.1
  ENSP00000514986.1
  ENSP00000514987.1
  ENSP00000514988.1
  ENSP00000515001.1
  ENSP00000515002.1
GenBank Protein P49768 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000012   ⟸   NM_000021
- Peptide Label: isoform I-467
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL),   A0A218KGN3 (UniProtKB/TrEMBL),   A0A218KGN4 (UniProtKB/TrEMBL),   A0A218KGN7 (UniProtKB/TrEMBL),   A0A218KGP0 (UniProtKB/TrEMBL),   A0A218KGP1 (UniProtKB/TrEMBL),   A0A218KGP3 (UniProtKB/TrEMBL),   A0A218KGQ3 (UniProtKB/TrEMBL),   A0A218KGQ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_015557   ⟸   NM_007318
- Peptide Label: isoform I-463
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL),   Q53FV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005267923   ⟸   XM_005267866
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL),   Q53FV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005267921   ⟸   XM_005267864
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL),   A0A218KGN3 (UniProtKB/TrEMBL),   A0A218KGN4 (UniProtKB/TrEMBL),   A0A218KGN7 (UniProtKB/TrEMBL),   A0A218KGP0 (UniProtKB/TrEMBL),   A0A218KGP1 (UniProtKB/TrEMBL),   A0A218KGP3 (UniProtKB/TrEMBL),   A0A218KGQ3 (UniProtKB/TrEMBL),   A0A218KGQ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535274   ⟸   XM_011536972
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL),   A0A218KGN3 (UniProtKB/TrEMBL),   A0A218KGN4 (UniProtKB/TrEMBL),   A0A218KGN7 (UniProtKB/TrEMBL),   A0A218KGP0 (UniProtKB/TrEMBL),   A0A218KGP1 (UniProtKB/TrEMBL),   A0A218KGP3 (UniProtKB/TrEMBL),   A0A218KGQ3 (UniProtKB/TrEMBL),   A0A218KGQ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535275   ⟸   XM_011536973
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL),   Q53FV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535276   ⟸   XM_011536974
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL),   Q53FV8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000450845   ⟸   ENST00000555386
Ensembl Acc Id: ENSP00000450652   ⟸   ENST00000555254
Ensembl Acc Id: ENSP00000452267   ⟸   ENST00000556066
Ensembl Acc Id: ENSP00000451662   ⟸   ENST00000556011
Ensembl Acc Id: ENSP00000450551   ⟸   ENST00000556951
Ensembl Acc Id: ENSP00000451588   ⟸   ENST00000556864
Ensembl Acc Id: ENSP00000452128   ⟸   ENST00000556533
Ensembl Acc Id: ENSP00000451498   ⟸   ENST00000557356
Ensembl Acc Id: ENSP00000451880   ⟸   ENST00000557293
Ensembl Acc Id: ENSP00000451347   ⟸   ENST00000557037
Ensembl Acc Id: ENSP00000451429   ⟸   ENST00000557511
Ensembl Acc Id: ENSP00000454156   ⟸   ENST00000559361
Ensembl Acc Id: ENSP00000326366   ⟸   ENST00000324501
Ensembl Acc Id: ENSP00000453466   ⟸   ENST00000560005
Ensembl Acc Id: ENSP00000385948   ⟸   ENST00000406768
Ensembl Acc Id: ENSP00000377719   ⟸   ENST00000394164
Ensembl Acc Id: ENSP00000377712   ⟸   ENST00000394157
Ensembl Acc Id: ENSP00000452242   ⟸   ENST00000553855
Ensembl Acc Id: ENSP00000451674   ⟸   ENST00000553719
Ensembl Acc Id: ENSP00000452477   ⟸   ENST00000553599
Ensembl Acc Id: ENSP00000350342   ⟸   ENST00000357710
Ensembl Acc Id: ENSP00000451915   ⟸   ENST00000554131
RefSeq Acc Id: XP_047287558   ⟸   XM_047431602
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287557   ⟸   XM_047431601
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287556   ⟸   XM_047431600
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000514929   ⟸   ENST00000700302
Ensembl Acc Id: ENSP00000515001   ⟸   ENST00000700468
Ensembl Acc Id: ENSP00000514933   ⟸   ENST00000700306
Ensembl Acc Id: ENSP00000514908   ⟸   ENST00000700273
Ensembl Acc Id: ENSP00000514944   ⟸   ENST00000700317
Ensembl Acc Id: ENSP00000514931   ⟸   ENST00000700304
Ensembl Acc Id: ENSP00000514938   ⟸   ENST00000700311
Ensembl Acc Id: ENSP00000514951   ⟸   ENST00000700324
Ensembl Acc Id: ENSP00000514904   ⟸   ENST00000700268
Ensembl Acc Id: ENSP00000514950   ⟸   ENST00000700323
Ensembl Acc Id: ENSP00000514942   ⟸   ENST00000700315
Ensembl Acc Id: ENSP00000514949   ⟸   ENST00000700322
Ensembl Acc Id: ENSP00000514941   ⟸   ENST00000700314
Ensembl Acc Id: ENSP00000514986   ⟸   ENST00000700431
Ensembl Acc Id: ENSP00000514987   ⟸   ENST00000700436
Ensembl Acc Id: ENSP00000514947   ⟸   ENST00000700320
Ensembl Acc Id: ENSP00000514903   ⟸   ENST00000700267
Ensembl Acc Id: ENSP00000514934   ⟸   ENST00000700307
Ensembl Acc Id: ENSP00000514940   ⟸   ENST00000700313
Ensembl Acc Id: ENSP00000514901   ⟸   ENST00000700265
Ensembl Acc Id: ENSP00000513477   ⟸   ENST00000697912
Ensembl Acc Id: ENSP00000514930   ⟸   ENST00000700303
Ensembl Acc Id: ENSP00000514905   ⟸   ENST00000700269
Ensembl Acc Id: ENSP00000514907   ⟸   ENST00000700272
Ensembl Acc Id: ENSP00000514939   ⟸   ENST00000700312
Ensembl Acc Id: ENSP00000514936   ⟸   ENST00000700309
Ensembl Acc Id: ENSP00000515002   ⟸   ENST00000700469
Ensembl Acc Id: ENSP00000514906   ⟸   ENST00000700271
Ensembl Acc Id: ENSP00000514967   ⟸   ENST00000700377
Ensembl Acc Id: ENSP00000514968   ⟸   ENST00000700378
Ensembl Acc Id: ENSP00000514935   ⟸   ENST00000700308
Ensembl Acc Id: ENSP00000514966   ⟸   ENST00000700375
Ensembl Acc Id: ENSP00000514932   ⟸   ENST00000700305
Ensembl Acc Id: ENSP00000514985   ⟸   ENST00000700430
Ensembl Acc Id: ENSP00000514937   ⟸   ENST00000700310
Ensembl Acc Id: ENSP00000514902   ⟸   ENST00000700266
Ensembl Acc Id: ENSP00000514945   ⟸   ENST00000700318
Ensembl Acc Id: ENSP00000514948   ⟸   ENST00000700321
Ensembl Acc Id: ENSP00000514943   ⟸   ENST00000700316
Ensembl Acc Id: ENSP00000514988   ⟸   ENST00000700437
Ensembl Acc Id: ENSP00000514970   ⟸   ENST00000700389
Ensembl Acc Id: ENSP00000514946   ⟸   ENST00000700319
RefSeq Acc Id: XP_054232395   ⟸   XM_054376420
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232390   ⟸   XM_054376415
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232389   ⟸   XM_054376414
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232393   ⟸   XM_054376418
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232391   ⟸   XM_054376416
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232394   ⟸   XM_054376419
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232388   ⟸   XM_054376413
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232392   ⟸   XM_054376417
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49768-F1-model_v2 AlphaFold P49768 1-467 view protein structure

Promoters
RGD ID:6791810
Promoter ID:HG_KWN:19724
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000261970,   ENST00000344094,   ENST00000394157,   ENST00000394164,   NM_000021,   NM_007318
Position:
Human AssemblyChrPosition (strand)Source
Build 361472,672,871 - 72,673,552 (+)MPROMDB
RGD ID:7228077
Promoter ID:EPDNEW_H19784
Type:initiation region
Name:PSEN1_1
Description:presenilin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19785  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,136,567EPDNEW
RGD ID:7228079
Promoter ID:EPDNEW_H19785
Type:initiation region
Name:PSEN1_2
Description:presenilin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19784  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,747 - 73,136,807EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9508 AgrOrtholog
COSMIC PSEN1 COSMIC
Ensembl Genes ENSG00000080815 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324501 ENTREZGENE
  ENST00000324501.10 UniProtKB/Swiss-Prot
  ENST00000357710 ENTREZGENE
  ENST00000357710.8 UniProtKB/Swiss-Prot
  ENST00000394157.7 UniProtKB/Swiss-Prot
  ENST00000394164 ENTREZGENE
  ENST00000394164.5 UniProtKB/Swiss-Prot
  ENST00000553447.7 UniProtKB/TrEMBL
  ENST00000553599.5 UniProtKB/TrEMBL
  ENST00000553599.6 UniProtKB/Swiss-Prot
  ENST00000553855.5 UniProtKB/Swiss-Prot
  ENST00000554131.5 UniProtKB/TrEMBL
  ENST00000554131.6 UniProtKB/Swiss-Prot
  ENST00000555254.5 UniProtKB/TrEMBL
  ENST00000555386.6 UniProtKB/Swiss-Prot
  ENST00000556011.6 UniProtKB/TrEMBL
  ENST00000556533.5 UniProtKB/TrEMBL
  ENST00000556864.5 UniProtKB/TrEMBL
  ENST00000556951 ENTREZGENE
  ENST00000556951.5 UniProtKB/TrEMBL
  ENST00000556951.6 UniProtKB/Swiss-Prot
  ENST00000557037.5 UniProtKB/TrEMBL
  ENST00000557293.6 UniProtKB/TrEMBL
  ENST00000557356.5 UniProtKB/TrEMBL
  ENST00000557511.5 UniProtKB/Swiss-Prot
  ENST00000559361.6 UniProtKB/TrEMBL
  ENST00000560005.6 UniProtKB/TrEMBL
  ENST00000697912.1 UniProtKB/TrEMBL
  ENST00000700265 ENTREZGENE
  ENST00000700265.1 UniProtKB/Swiss-Prot
  ENST00000700266.1 UniProtKB/TrEMBL
  ENST00000700267 ENTREZGENE
  ENST00000700267.1 UniProtKB/Swiss-Prot
  ENST00000700268 ENTREZGENE
  ENST00000700268.1 UniProtKB/Swiss-Prot
  ENST00000700269.1 UniProtKB/Swiss-Prot
  ENST00000700271.1 UniProtKB/TrEMBL
  ENST00000700272.1 UniProtKB/TrEMBL
  ENST00000700273.1 UniProtKB/Swiss-Prot
  ENST00000700302.1 UniProtKB/TrEMBL
  ENST00000700303.1 UniProtKB/TrEMBL
  ENST00000700304.1 UniProtKB/TrEMBL
  ENST00000700305.1 UniProtKB/TrEMBL
  ENST00000700306.1 UniProtKB/Swiss-Prot
  ENST00000700307.1 UniProtKB/TrEMBL
  ENST00000700308.1 UniProtKB/TrEMBL
  ENST00000700309.1 UniProtKB/TrEMBL
  ENST00000700310.1 UniProtKB/TrEMBL
  ENST00000700311.1 UniProtKB/TrEMBL
  ENST00000700312.1 UniProtKB/TrEMBL
  ENST00000700313.1 UniProtKB/Swiss-Prot
  ENST00000700314.1 UniProtKB/TrEMBL
  ENST00000700315.1 UniProtKB/TrEMBL
  ENST00000700316.1 UniProtKB/TrEMBL
  ENST00000700317.1 UniProtKB/Swiss-Prot
  ENST00000700318.1 UniProtKB/TrEMBL
  ENST00000700319.1 UniProtKB/TrEMBL
  ENST00000700320.1 UniProtKB/TrEMBL
  ENST00000700321.1 UniProtKB/Swiss-Prot
  ENST00000700322.1 UniProtKB/Swiss-Prot
  ENST00000700323.1 UniProtKB/Swiss-Prot
  ENST00000700324.1 UniProtKB/Swiss-Prot
  ENST00000700375.1 UniProtKB/Swiss-Prot
  ENST00000700377.1 UniProtKB/TrEMBL
  ENST00000700378 ENTREZGENE
  ENST00000700378.1 UniProtKB/Swiss-Prot
  ENST00000700389.1 UniProtKB/Swiss-Prot
  ENST00000700430.1 UniProtKB/TrEMBL
  ENST00000700431.1 UniProtKB/TrEMBL
  ENST00000700436.1 UniProtKB/Swiss-Prot
  ENST00000700437.1 UniProtKB/TrEMBL
  ENST00000700468.1 UniProtKB/TrEMBL
  ENST00000700469.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.472.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000080815 GTEx
HGNC ID HGNC:9508 ENTREZGENE
Human Proteome Map PSEN1 Human Proteome Map
InterPro Pept_A22A_PS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_A22A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Preselin/SPP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Presenilin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5663 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5663 ENTREZGENE
OMIM 104311 OMIM
PANTHER PRESENILIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10202 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Presenilin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33855 PharmGKB
PRINTS PRESENILIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRESENILIN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R6A3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z484_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4D2 ENTREZGENE, UniProtKB/TrEMBL
  A0A218KGN3 ENTREZGENE, UniProtKB/TrEMBL
  A0A218KGN4 ENTREZGENE, UniProtKB/TrEMBL
  A0A218KGN7 ENTREZGENE, UniProtKB/TrEMBL
  A0A218KGP0 ENTREZGENE, UniProtKB/TrEMBL
  A0A218KGP1 ENTREZGENE, UniProtKB/TrEMBL
  A0A218KGP3 ENTREZGENE, UniProtKB/TrEMBL
  A0A218KGQ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A218KGQ6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TLT5_HUMAN UniProtKB/TrEMBL
  A0A8V8TPK5_HUMAN UniProtKB/TrEMBL
  A0A8V8TPL0_HUMAN UniProtKB/TrEMBL
  A0A8V8TPL5_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ30_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ36_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ53_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ54_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ58_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ90_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ93_HUMAN UniProtKB/TrEMBL
  A0A8V8TQT3_HUMAN UniProtKB/TrEMBL
  A0A8V8TQU7_HUMAN UniProtKB/TrEMBL
  A0A8V8TQU9_HUMAN UniProtKB/TrEMBL
  A0A8V8TQV2_HUMAN UniProtKB/TrEMBL
  A0A8V8TR50_HUMAN UniProtKB/TrEMBL
  A0A8V8TR52_HUMAN UniProtKB/TrEMBL
  A0A8V8TR55_HUMAN UniProtKB/TrEMBL
  B2R6D3 ENTREZGENE
  G3V2B1_HUMAN UniProtKB/TrEMBL
  G3V2G7_HUMAN UniProtKB/TrEMBL
  G3V3P0_HUMAN UniProtKB/TrEMBL
  G3V3Z0_HUMAN UniProtKB/TrEMBL
  G3V449_HUMAN UniProtKB/TrEMBL
  G3V490_HUMAN UniProtKB/TrEMBL
  G3V4M0_HUMAN UniProtKB/TrEMBL
  G3V4P4_HUMAN UniProtKB/TrEMBL
  G3V519_HUMAN UniProtKB/TrEMBL
  H0YM52_HUMAN UniProtKB/TrEMBL
  H0YNU4_HUMAN UniProtKB/TrEMBL
  O95465 ENTREZGENE
  P49768 ENTREZGENE, UniProtKB/Swiss-Prot
  Q14762 ENTREZGENE
  Q15719 ENTREZGENE
  Q15720 ENTREZGENE
  Q53FV8 ENTREZGENE, UniProtKB/TrEMBL
  Q6F4C0_HUMAN UniProtKB/TrEMBL
  Q96P33 ENTREZGENE
  Q9UIF0 ENTREZGENE
UniProt Secondary B2R6D3 UniProtKB/Swiss-Prot
  O95465 UniProtKB/Swiss-Prot
  Q14762 UniProtKB/Swiss-Prot
  Q15719 UniProtKB/Swiss-Prot
  Q15720 UniProtKB/Swiss-Prot
  Q96P33 UniProtKB/Swiss-Prot
  Q9UIF0 UniProtKB/Swiss-Prot