ABCC1 (ATP binding cassette subfamily C member 1 (ABCC1 blood group)) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: ABCC1 (ATP binding cassette subfamily C member 1 (ABCC1 blood group)) Homo sapiens
Analyze
Symbol: ABCC1
Name: ATP binding cassette subfamily C member 1 (ABCC1 blood group) (Ensembl:ATP binding cassette subfamily C member 1)
RGD ID: 1344624
HGNC Page HGNC:51
Description: Enables several functions, including ATPase-coupled transmembrane transporter activity; efflux transmembrane transporter activity; and xenobiotic transmembrane transporter activity. Involved in several processes, including cyclic nucleotide transport; lipid translocation; and xenobiotic transport across blood-brain barrier. Located in apical plasma membrane; basolateral plasma membrane; and lateral plasma membrane. Implicated in autosomal dominant nonsyndromic deafness 77 and chronic obstructive pulmonary disease. Biomarker of chronic obstructive pulmonary disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC29; ABCC; ATP binding cassette subfamily C member 1; ATP-binding cassette sub-family C member 1; ATP-binding cassette transporter variant ABCC1delta-ex13; ATP-binding cassette transporter variant ABCC1delta-ex13&14; ATP-binding cassette transporter variant ABCC1delta-ex25; ATP-binding cassette transporter variant ABCC1delta-ex25&26; ATP-binding cassette, sub-family C (CFTR/MRP), member 1; DFNA77; DKFZp686N04233; DKFZp781G125; glutathione S-conjugate export pump; glutathione-S-conjugate-translocating ATPase ABCC1; GS-X; leukotriene C(4) transporter; LTC4 transporter; MRP; MRP1; multidrug resistance associated protein 1; multidrug resistance protein; multidrug resistance-associated protein 1; multiple drug resistance protein 1; multiple drug resistance-associated protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381615,949,143 - 16,143,053 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1615,949,138 - 16,143,257 (+)EnsemblGRCh38hg38GRCh38
GRCh371616,043,473 - 16,236,910 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361615,950,935 - 16,144,432 (+)NCBINCBI36Build 36hg18NCBI36
Build 341615,950,934 - 16,143,774NCBI
Celera1615,781,784 - 15,917,085 (+)NCBICelera
Cytogenetic Map16p13.11NCBI
HuRef1615,436,705 - 15,630,893 (+)NCBIHuRef
CHM1_11616,185,916 - 16,321,192 (+)NCBICHM1_1
T2T-CHM13v2.01615,954,068 - 16,147,908 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-alpha-viniferin  (EXP)
(+)-pilocarpine  (ISO)
(+)-taxifolin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(-)-matairesinol  (EXP)
(-)-trans-epsilon-viniferin  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (EXP)
(R)-adrenaline  (ISO)
(S)-colchicine  (EXP)
(S)-naringenin  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
15alpha-hydroxytestosterone  (ISO)
16alpha-hydroxytestosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 17-glucosiduronic acid  (EXP)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2'-(4-ethoxyphenyl)-5-(4-methylpiperazin-1-yl)-2,5'-bibenzimidazole  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-naphthol  (ISO)
2-tert-butylhydroquinone  (EXP,ISO)
26-hydroxycholesterol  (EXP)
3',4',7-trihydroxyisoflavone  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4',5,7-trihydroxy-3'-methoxyflavone  (EXP)
4'-epidoxorubicin  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (EXP,ISO)
4-nitrophenol  (ISO)
4-nitroquinoline N-oxide  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methoxypsoralen  (EXP)
6-carboxyfluorescein  (EXP)
6beta-hydroxytestosterone  (ISO)
8-Br-cAMP  (EXP)
[2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol  (EXP)
abamectin  (EXP,ISO)
acetamide  (ISO)
acetic acid [2-[[(5-nitro-2-thiazolyl)amino]-oxomethyl]phenyl] ester  (EXP)
acetochlor  (EXP)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
actinomycin D  (EXP,ISO)
ADP  (EXP)
aflatoxin B1  (EXP)
afrormosin  (EXP)
aldehydo-D-glucose  (ISO)
allyl alcohol  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antimony(0)  (EXP)
apigenin  (EXP)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic acid  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
ATP  (EXP,ISO)
baicalein  (EXP)
beclomethasone  (EXP)
benzbromarone  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bilirubin IXalpha  (EXP)
biochanin A  (EXP)
biopterin  (ISO)
bisdemethoxycurcumin  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcein  (EXP,ISO)
calcein am  (EXP)
calcitriol  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP)
Cannabinol  (EXP)
carbamazepine  (ISO)
carbon nanotube  (ISO)
carboplatin  (EXP)
celecoxib  (EXP)
chenodeoxycholic acid  (EXP)
CHIR 99021  (EXP)
chlorambucil  (EXP)
chlorogenic acid  (ISO)
chloroprene  (ISO)
chloroquine  (EXP)
chlorpropham  (ISO)
chlorpyrifos  (EXP)
cholic acid  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
chrysin  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (EXP)
clothianidin  (EXP)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
cortisol  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (ISO)
dabrafenib  (EXP)
daidzein  (EXP)
daunorubicin  (EXP,ISO)
delta-tocotrienol  (ISO)
demethoxycurcumin  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (ISO)
diallyl disulfide  (EXP)
Diallyl sulfide  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
dibenzo[a,l]pyrene  (ISO)
dichlorine  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dimethylarsinic acid  (EXP,ISO)
dimethylarsinous acid  (EXP)
diosmetin  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
disulfiram  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
emamectin  (EXP,ISO)
enasidenib  (EXP)
epoxiconazole  (ISO)
eriodictyol  (EXP)
etacrynic acid  (EXP)
etoposide  (EXP,ISO)
fenitrothion  (ISO)
flavone  (EXP)
flavonoids  (EXP)
Fluo-3  (ISO)
folic acid  (EXP,ISO)
formononetin  (EXP)
fosinopril  (EXP)
galangin  (EXP)
gallocatechin  (EXP)
gamma-tocopherol  (EXP)
geneticin  (EXP)
genistein  (EXP,ISO)
ginsenoside Re  (EXP)
ginsenoside Rg1  (EXP)
glucose  (ISO)
glutathione  (EXP,ISO)
glutathione disulfide  (EXP,ISO)
glyburide  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhetinate  (EXP,ISO)
glycyrrhetinic acid  (EXP,ISO)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
Grepafloxacin  (ISO)
haloperidol  (EXP)
heparin  (EXP)
heptachlor  (ISO)
hesperetin  (EXP)
hexadecanoic acid  (EXP)
hydrogen peroxide  (ISO)
hypericin  (EXP)
hypochlorous acid  (ISO)
idarubicin  (EXP)
indole-3-methanol  (ISO)
indometacin  (EXP,ISO)
irinotecan  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
iron(III) nitrilotriacetate  (ISO)
isoflavones  (EXP)
isoniazide  (ISO)
isoorientin  (EXP)
isorhamnetin  (EXP)
ivermectin  (EXP,ISO)
kaempferol  (EXP)
ketoconazole  (EXP)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
L-erythro-biopterin  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
leukotriene C4  (EXP)
levetiracetam  (ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (EXP,ISO)
lithocholic acid sulfate  (EXP)
loratadine  (EXP)
lovastatin  (ISO)
luteolin  (EXP)
LY294002  (ISO)
mebendazole  (EXP)
mefloquine  (EXP)
melphalan  (EXP)
mercury atom  (EXP,ISO)
mercury dichloride  (EXP,ISO)
mercury(0)  (EXP,ISO)
methapyrilene  (EXP)
methotrexate  (EXP,ISO)
methoxsalen  (EXP)
methoxychlor  (ISO)
methylarsonic acid  (EXP,ISO)
metiram  (EXP)
mitomycin C  (EXP)
MK 571  (EXP,ISO)
montelukast  (EXP)
morin  (EXP)
myricetin  (EXP)
N-acetyl-L-cysteine  (EXP)
N-ethylmaleimide  (EXP)
nelfinavir  (EXP)
nemorubicin  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
nimesulide  (EXP)
nimustine  (EXP)
nitric oxide  (ISO)
nobiletin  (EXP)
notoginsenoside R1  (EXP)
NS-398  (EXP)
Nutlin-3  (EXP)
oltipraz  (ISO)
ozone  (EXP,ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
Pentoxifylline  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl caffeate  (EXP)
phenobarbital  (ISO)
phenothiazines  (EXP)
phenytoin  (ISO)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
proanthocyanidin  (EXP)
probenecid  (EXP,ISO)
prodigiosin  (EXP)
prostaglandins E  (EXP)
puromycin  (EXP)
quercetin  (EXP,ISO)
raloxifene  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
robinetin  (EXP)
robinin  (EXP)
romidepsin  (EXP)
S-(2,4-dinitrophenyl)glutathione  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
saquinavir  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
senecionine  (ISO)
silicon dioxide  (ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
silver(1+) nitrate  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium azide  (ISO)
sodium chloride  (ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (EXP)
sodium stibogluconate  (ISO)
sorafenib  (EXP)
soybean oil  (ISO)
streptozocin  (ISO)
sulfinpyrazone  (EXP,ISO)
sulforaphane  (ISO)
sulindac  (EXP)
superoxide  (ISO)
tamoxifen  (EXP,ISO)
tartrazine  (EXP)
taurocholic acid  (EXP)
taurodeoxycholic acid  (EXP)
tauroursodeoxycholic acid  (EXP)
taxane  (EXP)
Technetium tc 99m sestamibi  (EXP)
temozolomide  (EXP)
teniposide  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thiethylperazine  (ISO)
thioacetamide  (ISO)
Thiotepa  (EXP)
tiagabine  (ISO)
titanium dioxide  (EXP)
tocopherol  (EXP)
toluene  (ISO)
topiramate  (ISO)
triclosan  (EXP)
trimethylarsine oxide  (ISO)
triptonide  (ISO)
tunicamycin  (ISO)
ursodeoxycholic acid  (EXP,ISO)
vadimezan  (EXP)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (EXP)
verapamil  (EXP,ISO)
vincaleukoblastine  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP,ISO)
XAV939  (EXP)
zafirlukast  (EXP)
zearalenone  (EXP,ISO)
zidovudine  (EXP)
zileuton  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats. Buchler M, etal., J Biol Chem 1996 Jun 21;271(25):15091-8.
2. Multidrug resistance-associated protein-1 (MRP1) genetic variants, MRP1 protein levels and severity of COPD. Budulac SE, etal., Respir Res. 2010 May 20;11:60.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Evaluation of MRP1-5 gene expression in cystic fibrosis patients homozygous for the delta F508 mutation. Hurbain I, etal., Pediatr Res. 2003 Nov;54(5):627-34. Epub 2003 Aug 20.
5. Accumulation of murine amyloid-ß mimics early Alzheimer's disease. Krohn M, etal., Brain. 2015 Aug;138(Pt 8):2370-82. doi: 10.1093/brain/awv137. Epub 2015 May 18.
6. Circ_0048856 competes with ABCC1 for miR-193a-5p/miR-98-5p binding sites to promote the cisplatin resistance and tumorigenesis in lung cancer. Liu L, etal., J Chemother. 2022 Mar 15:1-14. doi: 10.1080/1120009X.2022.2043515.
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Mice lacking the multidrug resistance protein 1 are resistant to Streptococcus pneumoniae-induced pneumonia. Schultz MJ, etal., J Immunol. 2001 Mar 15;166(6):4059-64.
12. Diminished expression of multidrug resistance-associated protein 1 (MRP1) in bronchial epithelium of COPD patients. van der Deen M, etal., Virchows Arch. 2006 Dec;449(6):682-8. Epub 2006 Oct 27.
13. Role of multidrug resistance-associated protein 1 in the pathogenesis of allergic airway inflammation. Yoshioka M, etal., Am J Physiol Lung Cell Mol Physiol. 2009 Jan;296(1):L30-6. Epub 2008 Oct 17.
Additional References at PubMed
PMID:1360704   PMID:2753893   PMID:7916458   PMID:7961706   PMID:8098549   PMID:8649356   PMID:8831715   PMID:9281595   PMID:9295302   PMID:9334225   PMID:9344662   PMID:9441948  
PMID:9485377   PMID:10064732   PMID:10493829   PMID:10811882   PMID:10835642   PMID:10950878   PMID:11114332   PMID:11139250   PMID:11266082   PMID:11278596   PMID:11278867   PMID:11439001  
PMID:11465409   PMID:11469806   PMID:11557130   PMID:11561076   PMID:11600213   PMID:11689020   PMID:11721885   PMID:11755464   PMID:11771758   PMID:11783953   PMID:11809686   PMID:11820781  
PMID:11925441   PMID:11937269   PMID:11986944   PMID:11995968   PMID:11996108   PMID:12018890   PMID:12034727   PMID:12042670   PMID:12084474   PMID:12119019   PMID:12135486   PMID:12146977  
PMID:12163030   PMID:12186871   PMID:12235150   PMID:12388549   PMID:12388627   PMID:12458196   PMID:12486126   PMID:12576456   PMID:12628490   PMID:12646196   PMID:12653207   PMID:12783859  
PMID:12856092   PMID:12882957   PMID:12890151   PMID:12897808   PMID:12925771   PMID:12954082   PMID:12954620   PMID:12960109   PMID:14561746   PMID:14578045   PMID:14580377   PMID:14627714  
PMID:14722114   PMID:14737110   PMID:14984901   PMID:15155846   PMID:15161912   PMID:15208328   PMID:15245331   PMID:15252017   PMID:15260484   PMID:15269137   PMID:15355964   PMID:15472893  
PMID:15623154   PMID:15628876   PMID:15810950   PMID:15856298   PMID:15999530   PMID:16014004   PMID:16041239   PMID:16041243   PMID:16156793   PMID:16230346   PMID:16278376   PMID:16293801  
PMID:16330681   PMID:16395283   PMID:16410721   PMID:16464259   PMID:16481346   PMID:16547352   PMID:16551273   PMID:16565074   PMID:16621983   PMID:16697012   PMID:16784241   PMID:16821592  
PMID:16883578   PMID:16914551   PMID:16946557   PMID:16960658   PMID:17033200   PMID:17050692   PMID:17203221   PMID:17215852   PMID:17264072   PMID:17295059   PMID:17336270   PMID:17350479  
PMID:17445775   PMID:17494643   PMID:17596751   PMID:17606722   PMID:17710652   PMID:17852453   PMID:17875533   PMID:17890284   PMID:17925548   PMID:17980150   PMID:18029348   PMID:18038766  
PMID:18056276   PMID:18200595   PMID:18204073   PMID:18256692   PMID:18280247   PMID:18316614   PMID:18336795   PMID:18381794   PMID:18400250   PMID:18439156   PMID:18619525   PMID:18621020  
PMID:18680196   PMID:18690847   PMID:18702307   PMID:18711657   PMID:18713069   PMID:18775981   PMID:18799096   PMID:18838379   PMID:18851956   PMID:18924151   PMID:19019175   PMID:19063607  
PMID:19065772   PMID:19067123   PMID:19107762   PMID:19129072   PMID:19165709   PMID:19214143   PMID:19214144   PMID:19235593   PMID:19285030   PMID:19291917   PMID:19343046   PMID:19349540  
PMID:19393132   PMID:19438741   PMID:19513507   PMID:19552816   PMID:19622290   PMID:19636555   PMID:19672972   PMID:19687781   PMID:19723058   PMID:19851296   PMID:19875192   PMID:19883630  
PMID:19885582   PMID:19897579   PMID:19913121   PMID:19924384   PMID:19940267   PMID:19946888   PMID:19948975   PMID:19956635   PMID:19969351   PMID:19969624   PMID:20004175   PMID:20051532  
PMID:20093746   PMID:20109555   PMID:20198315   PMID:20200426   PMID:20233511   PMID:20234362   PMID:20388502   PMID:20453000   PMID:20458337   PMID:20520284   PMID:20530282   PMID:20532504  
PMID:20604746   PMID:20628086   PMID:20689807   PMID:20922799   PMID:21090806   PMID:21143841   PMID:21177244   PMID:21182225   PMID:21315686   PMID:21317832   PMID:21435954   PMID:21511966  
PMID:21520403   PMID:21609321   PMID:21701864   PMID:21736601   PMID:21793937   PMID:21799180   PMID:21873635   PMID:21903422   PMID:21929509   PMID:21956451   PMID:21988832   PMID:22026728  
PMID:22037714   PMID:22084240   PMID:22086004   PMID:22117969   PMID:22143792   PMID:22182917   PMID:22188235   PMID:22232552   PMID:22272278   PMID:22293538   PMID:22353810   PMID:22445357  
PMID:22511347   PMID:22547309   PMID:22664042   PMID:22695718   PMID:22787275   PMID:22798502   PMID:22810586   PMID:22871336   PMID:22899102   PMID:22925562   PMID:22939629   PMID:22982023  
PMID:23052202   PMID:23137377   PMID:23178537   PMID:23396606   PMID:23580527   PMID:23667609   PMID:23686318   PMID:23765166   PMID:23799853   PMID:23896815   PMID:23917219   PMID:23996099  
PMID:24013781   PMID:24024181   PMID:24030729   PMID:24080162   PMID:24129190   PMID:24130369   PMID:24145140   PMID:24145283   PMID:24146141   PMID:24382439   PMID:24782036   PMID:24816252  
PMID:25029804   PMID:25060527   PMID:25078270   PMID:25218792   PMID:25233417   PMID:25258012   PMID:25264278   PMID:25283245   PMID:25425682   PMID:25550836   PMID:25564970   PMID:25580427  
PMID:25586348   PMID:25603048   PMID:25605145   PMID:25737551   PMID:25885226   PMID:25921289   PMID:25964055   PMID:25986174   PMID:26000815   PMID:26031227   PMID:26092470   PMID:26099600  
PMID:26108539   PMID:26200696   PMID:26344197   PMID:26395522   PMID:26407213   PMID:26496610   PMID:26589910   PMID:26590417   PMID:26600514   PMID:26617887   PMID:26638075   PMID:26715450  
PMID:26722004   PMID:26768616   PMID:26852750   PMID:26908299   PMID:26950035   PMID:27033456   PMID:27038543   PMID:27081035   PMID:27183435   PMID:27297967   PMID:27487127   PMID:27535620  
PMID:27689338   PMID:27706681   PMID:27739315   PMID:27803151   PMID:27878697   PMID:27880917   PMID:27908733   PMID:27983917   PMID:28050891   PMID:28112518   PMID:28266043   PMID:28411177  
PMID:28414325   PMID:28499449   PMID:28514442   PMID:28762597   PMID:28800122   PMID:28805931   PMID:28849227   PMID:28986522   PMID:29080842   PMID:29117863   PMID:29342177   PMID:29425587  
PMID:29436678   PMID:29507755   PMID:29509190   PMID:29548748   PMID:29572332   PMID:29602203   PMID:29752257   PMID:29966655   PMID:30132569   PMID:30257334   PMID:30279206   PMID:30280653  
PMID:30334318   PMID:30442766   PMID:30486550   PMID:30521500   PMID:30570851   PMID:30639242   PMID:30804502   PMID:30833792   PMID:30834416   PMID:30915355   PMID:30941955   PMID:31056421  
PMID:31073040   PMID:31091453   PMID:31150474   PMID:31189668   PMID:31240132   PMID:31268744   PMID:31273342   PMID:31536960   PMID:31698983   PMID:31704984   PMID:31750616   PMID:31791063  
PMID:31871319   PMID:31883360   PMID:31932471   PMID:31995728   PMID:32017076   PMID:32377003   PMID:32621177   PMID:32788342   PMID:32878879   PMID:33022573   PMID:33060197   PMID:33081264  
PMID:33087821   PMID:33097055   PMID:33340130   PMID:33420675   PMID:33469960   PMID:33515349   PMID:33570734   PMID:33571281   PMID:33640655   PMID:33721434   PMID:33782384   PMID:33961781  
PMID:34021087   PMID:34079125   PMID:34088745   PMID:34103599   PMID:34487542   PMID:34523261   PMID:34575890   PMID:34591612   PMID:34648729   PMID:34672954   PMID:34709727   PMID:34895074  
PMID:34954996   PMID:34990028   PMID:34990712   PMID:35032557   PMID:35203285   PMID:35271311   PMID:35337019   PMID:35654246   PMID:35696571   PMID:35906200   PMID:35944360   PMID:36070769  
PMID:36215168   PMID:36221036   PMID:36253893   PMID:36507589   PMID:36563915   PMID:36729852   PMID:37499664   PMID:37658050   PMID:37838788   PMID:38057687   PMID:38484722  


Genomics

Comparative Map Data
ABCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381615,949,143 - 16,143,053 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1615,949,138 - 16,143,257 (+)EnsemblGRCh38hg38GRCh38
GRCh371616,043,473 - 16,236,910 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361615,950,935 - 16,144,432 (+)NCBINCBI36Build 36hg18NCBI36
Build 341615,950,934 - 16,143,774NCBI
Celera1615,781,784 - 15,917,085 (+)NCBICelera
Cytogenetic Map16p13.11NCBI
HuRef1615,436,705 - 15,630,893 (+)NCBIHuRef
CHM1_11616,185,916 - 16,321,192 (+)NCBICHM1_1
T2T-CHM13v2.01615,954,068 - 16,147,908 (+)NCBIT2T-CHM13v2.0
Abcc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391614,179,317 - 14,292,743 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1614,179,422 - 14,293,601 (+)EnsemblGRCm39 Ensembl
GRCm381614,361,453 - 14,474,878 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1614,361,558 - 14,475,737 (+)EnsemblGRCm38mm10GRCm38
MGSCv371614,361,653 - 14,474,968 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361614,275,138 - 14,388,453 (+)NCBIMGSCv36mm8
Celera1614,966,079 - 15,077,783 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map169.75NCBI
Abcc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8101,022,041 - 1,162,431 (-)NCBIGRCr8
mRatBN7.210528,961 - 655,179 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10531,812 - 655,114 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx105,228,580 - 5,351,880 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01035,213,968 - 35,337,275 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010543,174 - 666,513 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010549,537 - 672,235 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10549,883 - 672,196 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01011,232,233 - 11,354,931 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410452,239 - 575,705 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110452,238 - 575,705 (-)NCBI
Celera1011,130,945 - 11,246,232 (-)NCBICelera
Cytogenetic Map10q11NCBI
Abcc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955442729,316 - 860,290 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955442729,322 - 858,826 (+)NCBIChiLan1.0ChiLan1.0
ABCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21816,295,604 - 16,482,561 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11619,921,573 - 20,108,728 (+)NCBINHGRI_mPanPan1
ABCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1627,855,702 - 27,950,140 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl627,855,702 - 27,989,331 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha629,219,306 - 29,353,121 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0628,018,483 - 28,152,589 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl628,010,824 - 28,152,766 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1627,821,973 - 27,955,836 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0627,711,967 - 27,845,729 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0628,117,166 - 28,251,282 (-)NCBIUU_Cfam_GSD_1.0
Abcc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344115,297,821 - 115,369,238 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365013,401,285 - 3,470,460 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365013,400,971 - 3,467,061 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl328,360,873 - 28,473,456 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1328,360,868 - 28,472,940 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2329,082,788 - 29,172,693 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1514,972,589 - 15,164,594 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl514,972,646 - 15,164,567 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606814,816,018 - 14,953,501 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624782449,288 - 591,310 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624782449,217 - 590,306 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCC1
124 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 copy number gain See cases [RCV000050353] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050356]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050356]|See cases [RCV000050356] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1 copy number loss See cases [RCV000050818] Chr16:14816348..18047194 [GRCh38]
Chr16:14910205..18141051 [GRCh37]
Chr16:14817706..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1 copy number loss See cases [RCV000050970] Chr16:14816348..18658403 [GRCh38]
Chr16:14910205..18669725 [GRCh37]
Chr16:14817706..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 copy number gain See cases [RCV000050861] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|Hyperactivity [RCV000050864]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|See cases [RCV000050863] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050778]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050778]|See cases [RCV000050778] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 copy number loss See cases [RCV000050779] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000050601] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 copy number gain See cases [RCV000050720] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 copy number loss See cases [RCV000050722] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 copy number gain Cleft upper lip [RCV000050367]|See cases [RCV000050367] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3 copy number gain See cases [RCV000051358] Chr16:14717194..16450842 [GRCh38]
Chr16:14811051..16544699 [GRCh37]
Chr16:14718552..16452200 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3 copy number gain See cases [RCV000051359] Chr16:14717194..16508540 [GRCh38]
Chr16:14811051..16602397 [GRCh37]
Chr16:14718552..16509898 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816148-16100862)x3 copy number gain See cases [RCV000051360] Chr16:14816148..16100862 [GRCh38]
Chr16:14910005..16194719 [GRCh37]
Chr16:14817506..16102220 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816148-16431632)x3 copy number gain See cases [RCV000051387] Chr16:14816148..16431632 [GRCh38]
Chr16:14910005..16525489 [GRCh37]
Chr16:14817506..16432990 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16148900)x3 copy number gain See cases [RCV000051390] Chr16:14816348..16148900 [GRCh38]
Chr16:14910205..16242757 [GRCh37]
Chr16:14817706..16150258 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 copy number gain See cases [RCV000051392] Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3 copy number gain See cases [RCV000051393] Chr16:14823949..16281234 [GRCh38]
Chr16:14917806..16375091 [GRCh37]
Chr16:14825307..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3 copy number gain See cases [RCV000051396] Chr16:14850703..16211879 [GRCh38]
Chr16:14944560..16305736 [GRCh37]
Chr16:14852061..16213237 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14907656-16206199)x3 copy number gain See cases [RCV000051397] Chr16:14907656..16206199 [GRCh38]
Chr16:15001513..16300056 [GRCh37]
Chr16:14909014..16207557 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14907656-16281234)x3 copy number gain See cases [RCV000051398] Chr16:14907656..16281234 [GRCh38]
Chr16:15001513..16375091 [GRCh37]
Chr16:14909014..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3 copy number gain See cases [RCV000051399] Chr16:15050263..18212997 [GRCh38]
Chr16:15144120..18306854 [GRCh37]
Chr16:15051621..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 copy number gain See cases [RCV000051353] Chr16:14609647..18765817 [GRCh38]
Chr16:14703504..18777139 [GRCh37]
Chr16:14611005..18684640 [NCBI36]
Chr16:16p13.12-12.3		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3 copy number gain See cases [RCV000051354] Chr16:14639096..16431491 [GRCh38]
Chr16:14732953..16525348 [GRCh37]
Chr16:14640454..16432849 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668182-16493213)x3 copy number gain See cases [RCV000051355] Chr16:14668182..16493213 [GRCh38]
Chr16:14762039..16587070 [GRCh37]
Chr16:14669540..16494571 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3 copy number gain See cases [RCV000051356] Chr16:14668382..16100721 [GRCh38]
Chr16:14762239..16194578 [GRCh37]
Chr16:14669740..16102079 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16678513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|See cases [RCV000051357] Chr16:14668382..16678513 [GRCh38]
Chr16:14762239..16772370 [GRCh37]
Chr16:14669740..16679871 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3 copy number gain See cases [RCV000051141] Chr16:15457445..18658403 [GRCh38]
Chr16:15551302..18669725 [GRCh37]
Chr16:15458803..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 copy number gain See cases [RCV000051001] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 copy number loss See cases [RCV000051002] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1 copy number loss See cases [RCV000051057] Chr16:15140576..18658403 [GRCh38]
Chr16:15234433..18669725 [GRCh37]
Chr16:15141934..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1 copy number loss See cases [RCV000052487] Chr16:14823949..18055828 [GRCh38]
Chr16:14917806..18149685 [GRCh37]
Chr16:14825307..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874798-16100862)x1 copy number loss See cases [RCV000052488] Chr16:14874798..16100862 [GRCh38]
Chr16:14968655..16194719 [GRCh37]
Chr16:14876156..16102220 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954694-16100862)x1 copy number loss See cases [RCV000052505] Chr16:14954694..16100862 [GRCh38]
Chr16:15048551..16194719 [GRCh37]
Chr16:14956052..16102220 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310395-18213149)x1 copy number loss See cases [RCV000052512] Chr16:15310395..18213149 [GRCh38]
Chr16:15404252..18307006 [GRCh37]
Chr16:15311753..18214507 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3 copy number gain See cases [RCV000052515] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1 copy number loss See cases [RCV000052516] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1 copy number loss See cases [RCV000052517] Chr16:15434653..16281234 [GRCh38]
Chr16:15528510..16375091 [GRCh37]
Chr16:15436011..16282592 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3 copy number gain See cases [RCV000053093] Chr16:15060830..18212997 [GRCh38]
Chr16:15154687..18306854 [GRCh37]
Chr16:15062188..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15185940-18658544)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|See cases [RCV000053094] Chr16:15185940..18658544 [GRCh38]
Chr16:15279797..18669866 [GRCh37]
Chr16:15187298..18577367 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000053095] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000053096] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15457445-17169859)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|See cases [RCV000053308] Chr16:15457445..17169859 [GRCh38]
Chr16:15551302..17263716 [GRCh37]
Chr16:15458803..17171217 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:15187330-16281234)x3 copy number gain See cases [RCV000053097] Chr16:15187330..16281234 [GRCh38]
Chr16:15281187..16375091 [GRCh37]
Chr16:15188688..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3 copy number gain See cases [RCV000053098] Chr16:15299037..18267893 [GRCh38]
Chr16:15392894..18361750 [GRCh37]
Chr16:15300395..18269251 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3 copy number gain See cases [RCV000053099] Chr16:15310595..18620659 [GRCh38]
Chr16:15404452..18631981 [GRCh37]
Chr16:15311953..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3 copy number gain See cases [RCV000053102] Chr16:15398460..18047194 [GRCh38]
Chr16:15492317..18141051 [GRCh37]
Chr16:15399818..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
NM_004996.4(ABCC1):c.596C>T (p.Ser199Leu) single nucleotide variant not provided [RCV000106398] Chr16:16016602 [GRCh38]
Chr16:16110459 [GRCh37]
Chr16:16p13.11		 not provided
NM_004996.4(ABCC1):c.3391-99G>A single nucleotide variant not provided [RCV000106399] Chr16:16121876 [GRCh38]
Chr16:16215733 [GRCh37]
Chr16:16p13.11		 not provided
NM_004996.4(ABCC1):c.3139T>G (p.Cys1047Gly) single nucleotide variant not provided [RCV000106400] Chr16:16114825 [GRCh38]
Chr16:16208682 [GRCh37]
Chr16:16p13.11		 not provided
NM_004996.4(ABCC1):c.1678-34G>A single nucleotide variant not provided [RCV000106401] Chr16:16068122 [GRCh38]
Chr16:16161979 [GRCh37]
Chr16:16p13.11		 not provided
NM_004996.4(ABCC1):c.809+16C>T single nucleotide variant not provided [RCV000106402] Chr16:16036619 [GRCh38]
Chr16:16130476 [GRCh37]
Chr16:16p13.11		 not provided
NM_004996.4(ABCC1):c.1218+9C>T single nucleotide variant not provided [RCV000119782] Chr16:16046022 [GRCh38]
Chr16:16139879 [GRCh37]
Chr16:16p13.11		 likely benign|not provided
NM_004996.4(ABCC1):c.1913-718G>T single nucleotide variant Familial cancer of breast [RCV000123396] Chr16:16075608 [GRCh38]
Chr16:16169465 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1913-617C>T single nucleotide variant Familial cancer of breast [RCV000123397] Chr16:16075709 [GRCh38]
Chr16:16169566 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1913-609G>A single nucleotide variant Familial cancer of breast [RCV000123398] Chr16:16075717 [GRCh38]
Chr16:16169574 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1988+219G>T single nucleotide variant Familial cancer of breast [RCV000123399] Chr16:16076620 [GRCh38]
Chr16:16170477 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1988+310C>T single nucleotide variant Familial cancer of breast [RCV000123400] Chr16:16076711 [GRCh38]
Chr16:16170568 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1988+357G>T single nucleotide variant Familial cancer of breast [RCV000123401] Chr16:16076758 [GRCh38]
Chr16:16170615 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1988+848A>G single nucleotide variant Familial cancer of breast [RCV000123402] Chr16:16077249 [GRCh38]
Chr16:16171106 [GRCh37]
Chr16:16p13.11		 association
NM_004996.4(ABCC1):c.1988+890G>T single nucleotide variant Familial cancer of breast [RCV000123403] Chr16:16077291 [GRCh38]
Chr16:16171148 [GRCh37]
Chr16:16p13.11		 association
NM_004996.4(ABCC1):c.2168G>A (p.Arg723Gln) single nucleotide variant Familial cancer of breast [RCV000123404] Chr16:16083418 [GRCh38]
Chr16:16177275 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.2292+288G>A single nucleotide variant Familial cancer of breast [RCV000123405] Chr16:16083830 [GRCh38]
Chr16:16177687 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.2461-1217G>A single nucleotide variant Familial cancer of breast [RCV000123406] Chr16:16089188 [GRCh38]
Chr16:16183045 [GRCh37]
Chr16:16p13.11		 association
NM_004996.4(ABCC1):c.2461-1175C>G single nucleotide variant Familial cancer of breast [RCV000123407] Chr16:16089230 [GRCh38]
Chr16:16183087 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3 copy number gain not provided [RCV002292936] Chr16:15458733..18520588 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833) copy number gain Autism [RCV002280692] Chr16:15316618..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
Single allele deletion 16p13.11 recurrent microdeletion syndrome [RCV003221320] Chr16:14692101..16527136 [GRCh38]
Chr16:16p13.12-13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3 copy number gain Intellectual disability [RCV001293648] Chr16:15126890..16293190 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 copy number loss See cases [RCV000050863] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
NC_000016.10:g.(?_15703134)_(16223472_?)del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006946] Chr16:15703134..16223472 [GRCh38]
Chr16:15796991..16317329 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 copy number loss See cases [RCV000050356] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 copy number gain See cases [RCV000050367] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:14876356..16035378 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 copy number gain See cases [RCV000050778] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.855G>A (p.Pro285=) single nucleotide variant not provided [RCV000145430] Chr16:16044495 [GRCh38]
Chr16:16138352 [GRCh37]
Chr16:16p13.11		 not provided
NM_004996.4(ABCC1):c.352-79G>A single nucleotide variant not provided [RCV000145431] Chr16:16014412 [GRCh38]
Chr16:16108269 [GRCh37]
Chr16:16p13.11		 not provided
NM_004996.4(ABCC1):c.4551G>A (p.Gln1517=) single nucleotide variant not provided [RCV000145432] Chr16:16141236 [GRCh38]
Chr16:16235093 [GRCh37]
Chr16:16p13.11		 not provided
GRCh38/hg38 16p13.11(chr16:15398450-16211820)x1 copy number loss See cases [RCV000134456] Chr16:15398450..16211820 [GRCh38]
Chr16:15492307..16305677 [GRCh37]
Chr16:15399808..16213178 [NCBI36]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3 copy number gain See cases [RCV000134080] Chr16:14954875..16100718 [GRCh38]
Chr16:15048732..16194575 [GRCh37]
Chr16:14956233..16102076 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1 copy number loss See cases [RCV000135322] Chr16:14716125..16383721 [GRCh38]
Chr16:14809982..16477578 [GRCh37]
Chr16:14717483..16385079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1 copy number loss See cases [RCV000135502] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 copy number gain See cases [RCV000135525] Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15457445-16633564)x3 copy number gain See cases [RCV000136541] Chr16:15457445..16633564 [GRCh38]
Chr16:15551302..16727421 [GRCh37]
Chr16:15458803..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457205-16100718)x3 copy number gain See cases [RCV000135975] Chr16:15457205..16100718 [GRCh38]
Chr16:15551062..16194575 [GRCh37]
Chr16:15458563..16102076 [NCBI36]
Chr16:16p13.11		 conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3 copy number gain See cases [RCV000136807] Chr16:15060830..18535437 [GRCh38]
Chr16:15154687..18546759 [GRCh37]
Chr16:15062188..18454260 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3 copy number gain See cases [RCV000137429] Chr16:14783830..16467294 [GRCh38]
Chr16:14877687..16561151 [GRCh37]
Chr16:14785188..16468652 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3 copy number gain See cases [RCV000137451] Chr16:15261472..18768479 [GRCh38]
Chr16:15355329..18779801 [GRCh37]
Chr16:15262830..18687302 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3 copy number gain See cases [RCV000137543] Chr16:14783830..18680735 [GRCh38]
Chr16:14877687..18692057 [GRCh37]
Chr16:14785188..18599558 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3 copy number gain See cases [RCV000137588] Chr16:15194583..18726698 [GRCh38]
Chr16:15288440..18738020 [GRCh37]
Chr16:15195941..18645521 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3 copy number gain See cases [RCV000137700] Chr16:15186140..18783183 [GRCh38]
Chr16:15279997..18794505 [GRCh37]
Chr16:15187498..18702006 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3 copy number gain See cases [RCV000137491] Chr16:15194583..18170423 [GRCh38]
Chr16:15288440..18264280 [GRCh37]
Chr16:15195941..18171781 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3 copy number gain See cases [RCV000137632] Chr16:14783830..16753905 [GRCh38]
Chr16:14877687..16847762 [GRCh37]
Chr16:14785188..16755263 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3 copy number gain See cases [RCV000137336] Chr16:15194583..18214016 [GRCh38]
Chr16:15288440..18307873 [GRCh37]
Chr16:15195941..18215374 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1 copy number loss See cases [RCV000138037] Chr16:14816259..16431491 [GRCh38]
Chr16:14910116..16525348 [GRCh37]
Chr16:14817617..16432849 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15345033-16431491)x3 copy number gain See cases [RCV000138207] Chr16:15345033..16431491 [GRCh38]
Chr16:15438890..16525348 [GRCh37]
Chr16:15346391..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1 copy number loss See cases [RCV000138104] Chr16:14783830..16234088 [GRCh38]
Chr16:14877687..16327945 [GRCh37]
Chr16:14785188..16235446 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3 copy number gain See cases [RCV000138003] Chr16:15194583..18236409 [GRCh38]
Chr16:15288440..18330266 [GRCh37]
Chr16:15195941..18237767 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1 copy number loss See cases [RCV000138168] Chr16:15398450..18212997 [GRCh38]
Chr16:15492307..18306854 [GRCh37]
Chr16:15399808..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15345033-16753905)x3 copy number gain See cases [RCV000137763] Chr16:15345033..16753905 [GRCh38]
Chr16:15438890..16847762 [GRCh37]
Chr16:15346391..16755263 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3 copy number gain See cases [RCV000137801] Chr16:14783830..16268850 [GRCh38]
Chr16:14877687..16362707 [GRCh37]
Chr16:14785188..16270208 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1 copy number loss See cases [RCV000138825] Chr16:15457205..18212984 [GRCh38]
Chr16:15551062..18306841 [GRCh37]
Chr16:15458563..18214342 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1 copy number loss See cases [RCV000138522] Chr16:14783830..16198378 [GRCh38]
Chr16:14877687..16292235 [GRCh37]
Chr16:14785188..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15398450-16198378)x1 copy number loss See cases [RCV000138525] Chr16:15398450..16198378 [GRCh38]
Chr16:15492307..16292235 [GRCh37]
Chr16:15399808..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3 copy number gain See cases [RCV000138254] Chr16:14783830..18768479 [GRCh38]
Chr16:14877687..18779801 [GRCh37]
Chr16:14785188..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3 copy number gain See cases [RCV000138546] Chr16:15186140..18768479 [GRCh38]
Chr16:15279997..18779801 [GRCh37]
Chr16:15187498..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3 copy number gain See cases [RCV000139447] Chr16:14832186..16741305 [GRCh38]
Chr16:14926043..16835162 [GRCh37]
Chr16:14833544..16742663 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14954894-16198378)x1 copy number loss See cases [RCV000139438] Chr16:14954894..16198378 [GRCh38]
Chr16:15048751..16292235 [GRCh37]
Chr16:14956252..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:15345033-16268850)x3 copy number gain See cases [RCV000139195] Chr16:15345033..16268850 [GRCh38]
Chr16:15438890..16362707 [GRCh37]
Chr16:15346391..16270208 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3 copy number gain See cases [RCV000139051] Chr16:15184811..18535419 [GRCh38]
Chr16:15278668..18546741 [GRCh37]
Chr16:15186169..18454242 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16450562)x3 copy number gain See cases [RCV000139898] Chr16:15388063..16450562 [GRCh38]
Chr16:15481920..16544419 [GRCh37]
Chr16:15389421..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15937798-15954802)x3 copy number gain See cases [RCV000140343] Chr16:15937798..15954802 [GRCh38]
Chr16:16031655..16048659 [GRCh37]
Chr16:15939156..15956160 [NCBI36]
Chr16:16p13.11		 likely benign
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1 copy number loss See cases [RCV000139649] Chr16:15398450..18068310 [GRCh38]
Chr16:15492307..18162167 [GRCh37]
Chr16:15399808..18069668 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4 copy number gain See cases [RCV000141231] Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16234983)x3 copy number gain See cases [RCV000140897] Chr16:15388063..16234983 [GRCh38]
Chr16:15481920..16328840 [GRCh37]
Chr16:15389421..16236341 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15344307-16294387)x3 copy number gain See cases [RCV000140800] Chr16:15344307..16294387 [GRCh38]
Chr16:15438164..16388244 [GRCh37]
Chr16:15345665..16295745 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3 copy number gain See cases [RCV000140802] Chr16:14799872..16440033 [GRCh38]
Chr16:14893729..16533890 [GRCh37]
Chr16:14801230..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3 copy number gain See cases [RCV000140646] Chr16:15128213..18577521 [GRCh38]
Chr16:15222070..18588843 [GRCh37]
Chr16:15129571..18496344 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3 copy number gain See cases [RCV000140664] Chr16:15186140..18068310 [GRCh38]
Chr16:15279997..18162167 [GRCh37]
Chr16:15187498..18069668 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3 copy number gain See cases [RCV000140931] Chr16:14806311..16439385 [GRCh38]
Chr16:14900168..16533242 [GRCh37]
Chr16:14807669..16440743 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3 copy number gain See cases [RCV000140727] Chr16:14686278..16431491 [GRCh38]
Chr16:14780135..16525348 [GRCh37]
Chr16:14687636..16432849 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3 copy number gain See cases [RCV000140763] Chr16:14783830..16450901 [GRCh38]
Chr16:14877687..16544758 [GRCh37]
Chr16:14785188..16452259 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3 copy number gain See cases [RCV000141937] Chr16:14799175..16450562 [GRCh38]
Chr16:14893032..16544419 [GRCh37]
Chr16:14800533..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16232220)x3 copy number gain See cases [RCV000141942] Chr16:15388063..16232220 [GRCh38]
Chr16:15481920..16326077 [GRCh37]
Chr16:15389421..16233578 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3 copy number gain See cases [RCV000141961] Chr16:14799023..16440033 [GRCh38]
Chr16:14892880..16533890 [GRCh37]
Chr16:14800381..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1 copy number loss See cases [RCV000141894] Chr16:14805819..16420254 [GRCh38]
Chr16:14899676..16514111 [GRCh37]
Chr16:14807177..16421612 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15382367-16450562)x3 copy number gain See cases [RCV000141850] Chr16:15382367..16450562 [GRCh38]
Chr16:15476224..16544419 [GRCh37]
Chr16:15383725..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1 copy number loss See cases [RCV000141748] Chr16:14802528..16236815 [GRCh38]
Chr16:14896385..16330672 [GRCh37]
Chr16:14803886..16238173 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3 copy number gain See cases [RCV000141751] Chr16:14772426..16440033 [GRCh38]
Chr16:14866283..16533890 [GRCh37]
Chr16:14773784..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1 copy number loss See cases [RCV000141796] Chr16:14772427..16298053 [GRCh38]
Chr16:14866284..16391910 [GRCh37]
Chr16:14773785..16299411 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3 copy number gain See cases [RCV000141667] Chr16:15325296..18078611 [GRCh38]
Chr16:15419153..18172468 [GRCh37]
Chr16:15326654..18079969 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3 copy number gain See cases [RCV000142352] Chr16:14806274..16440033 [GRCh38]
Chr16:14900131..16533890 [GRCh37]
Chr16:14807632..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1 copy number loss See cases [RCV000142363] Chr16:14803768..16400926 [GRCh38]
Chr16:14897625..16494783 [GRCh37]
Chr16:14805126..16402284 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14956111-16202043)x1 copy number loss See cases [RCV000142256] Chr16:14956111..16202043 [GRCh38]
Chr16:15049968..16295900 [GRCh37]
Chr16:14957469..16203401 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3 copy number gain See cases [RCV000142280] Chr16:14803931..16199448 [GRCh38]
Chr16:14897788..16293305 [GRCh37]
Chr16:14805289..16200806 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x1 copy number loss See cases [RCV000142443] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:14876356..16035378 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3 copy number gain See cases [RCV000142135] Chr16:15218552..18148856 [GRCh38]
Chr16:15312409..18242713 [GRCh37]
Chr16:15219910..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1 copy number loss See cases [RCV000142066] Chr16:15387890..16294387 [GRCh38]
Chr16:15481747..16388244 [GRCh37]
Chr16:15389248..16295745 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15356432-16364551)x3 copy number gain See cases [RCV000142145] Chr16:15356432..16364551 [GRCh38]
Chr16:15450289..16458408 [GRCh37]
Chr16:15357790..16365909 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3 copy number gain See cases [RCV000142084] Chr16:14806325..16450161 [GRCh38]
Chr16:14900182..16544018 [GRCh37]
Chr16:14807683..16451519 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15034128-16427245)x3 copy number gain See cases [RCV000142092] Chr16:15034128..16427245 [GRCh38]
Chr16:15127985..16521102 [GRCh37]
Chr16:15035486..16428603 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16268850)x1 copy number loss See cases [RCV000143025] Chr16:15398450..16268850 [GRCh38]
Chr16:15492307..16362707 [GRCh37]
Chr16:15399808..16270208 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1 copy number loss See cases [RCV000142822] Chr16:14816356..16648337 [GRCh38]
Chr16:14910213..16742194 [GRCh37]
Chr16:14817714..16649695 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1 copy number loss See cases [RCV000142851] Chr16:14816356..16431517 [GRCh38]
Chr16:14910213..16525374 [GRCh37]
Chr16:14817714..16432875 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1 copy number loss See cases [RCV000143096] Chr16:14803931..16414182 [GRCh38]
Chr16:14897788..16508039 [GRCh37]
Chr16:14805289..16415540 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1 copy number loss See cases [RCV000142529] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3 copy number gain See cases [RCV000142565] Chr16:14816348..16678513 [GRCh38]
Chr16:14910205..16772370 [GRCh37]
Chr16:14817706..16679871 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3 copy number gain See cases [RCV000143416] Chr16:15223052..18148856 [GRCh38]
Chr16:15316909..18242713 [GRCh37]
Chr16:15224410..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3 copy number gain See cases [RCV000143320] Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1 copy number loss See cases [RCV000143204] Chr16:15398450..18272881 [GRCh38]
Chr16:15492307..18366738 [GRCh37]
Chr16:15399808..18274239 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3 copy number gain See cases [RCV000143143] Chr16:14783830..18536926 [GRCh38]
Chr16:14877687..18548248 [GRCh37]
Chr16:14785188..18455749 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15355839-16294739)x1 copy number loss See cases [RCV000143230] Chr16:15355839..16294739 [GRCh38]
Chr16:15449696..16388596 [GRCh37]
Chr16:15357197..16296097 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3 copy number gain See cases [RCV000143165] Chr16:15222856..18148856 [GRCh38]
Chr16:15316713..18242713 [GRCh37]
Chr16:15224214..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 copy number loss See cases [RCV000148070] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 copy number loss See cases [RCV000148071] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000148077] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 copy number gain See cases [RCV000148067] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 copy number gain See cases [RCV000148068] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3 copy number gain See cases [RCV000143608] Chr16:14794724..16404227 [GRCh38]
Chr16:14888581..16498084 [GRCh37]
Chr16:14796082..16405585 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 copy number gain See cases [RCV000148200] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 copy number gain See cases [RCV000148105] Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000148208] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000148146] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 copy number gain See cases [RCV000148114] Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 copy number loss See cases [RCV000148167] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 copy number gain See cases [RCV000148180] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15494600-16327230)x1 copy number loss See cases [RCV000240127] Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15507184-16315198)x3 copy number gain See cases [RCV000240168] Chr16:15507184..16315198 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15730753-16276115)x3 copy number gain See cases [RCV000240086] Chr16:15730753..16276115 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
Single allele duplication Intestinal malrotation [RCV000754987] Chr16:15491492..16292218 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15489920-18141051)x3 copy number gain See cases [RCV000240098] Chr16:15489920..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15501629-16327230)x3 copy number gain See cases [RCV000239865] Chr16:15501629..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss See cases [RCV000239901] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327230)x3 copy number gain See cases [RCV000239980] Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15730753-16276115)x1 copy number loss See cases [RCV000239982] Chr16:15730753..16276115 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14906734-16516109)x1 copy number loss See cases [RCV000511321] Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16292235)x1 copy number loss See cases [RCV000240260] Chr16:15494600..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15489920-16327230)x3 copy number gain See cases [RCV000240480] Chr16:15489920..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14910205-16327230)x3 copy number gain See cases [RCV000240601] Chr16:14910205..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15507184-16306653)x3 copy number gain See cases [RCV000240297] Chr16:15507184..16306653 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain See cases [RCV000240491] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3 copy number gain not provided [RCV002292935] Chr16:15457516..17564653 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3 copy number gain See cases [RCV000598738] Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4 copy number gain See cases [RCV000598971] Chr16:15499057..18264837 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18242712)x3 copy number gain See cases [RCV000449425] Chr16:15316618..18242712 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15422920-18181971)x1 copy number loss See cases [RCV000449218] Chr16:15422920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16533890)x3 copy number gain See cases [RCV000449310] Chr16:14866283..16533890 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16494783)x1 copy number loss See cases [RCV000449476] Chr16:14866283..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892713-16533890)x3 copy number gain See cases [RCV000447682] Chr16:14892713..16533890 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533890)x1 copy number loss See cases [RCV000446976] Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327171)x3 copy number gain See cases [RCV000446987] Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897372-16495076)x1 copy number loss See cases [RCV000446228] Chr16:14897372..16495076 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16390970)x3 copy number gain See cases [RCV000446288] Chr16:14866283..16390970 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855348)x3 copy number gain See cases [RCV000446392] Chr16:14866283..16855348 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14910205-16586870)x3 copy number gain See cases [RCV000446726] Chr16:14910205..16586870 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain See cases [RCV000447011] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18172468)x3 copy number gain See cases [RCV000447066] Chr16:15193982..18172468 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14899958-16519467)x3 copy number gain See cases [RCV000446766] Chr16:14899958..16519467 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897243-16516109)x3 copy number gain See cases [RCV000447511] Chr16:14897243..16516109 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15418908-16388596)x3 copy number gain See cases [RCV000446781] Chr16:15418908..16388596 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16292181)x3 copy number gain See cases [RCV000447647] Chr16:15489920..16292181 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14906734-16498084)x1 copy number loss See cases [RCV000445845] Chr16:14906734..16498084 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14928345-16294403)x3 copy number gain See cases [RCV000445858] Chr16:14928345..16294403 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16327171)x3 copy number gain See cases [RCV000445864] Chr16:15489920..16327171 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18191725)x3 copy number gain See cases [RCV000448998] Chr16:15193982..18191725 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14888582-16855348)x3 copy number gain See cases [RCV000448024] Chr16:14888582..16855348 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15539023-16291541) copy number gain Abnormal esophagus morphology [RCV000416782] Chr16:15539023..16291541 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855477)x3 copy number gain See cases [RCV000448548] Chr16:14866283..16855477 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14985615-17000304) copy number gain Abnormal esophagus morphology [RCV000416828] Chr16:14985615..17000304 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897243-16527476)x3 copy number gain See cases [RCV000447712] Chr16:14897243..16527476 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15420069-16388596)x1 copy number loss See cases [RCV000447918] Chr16:15420069..16388596 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16391910)x3 copy number gain See cases [RCV000447927] Chr16:15449696..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_15180601)_(18778866_?)dup duplication Schizophrenia [RCV000416672] Chr16:15180601..18778866 [GRCh37]
Chr16:15088102..18686367 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533107)x3 copy number gain See cases [RCV000448293] Chr16:14892880..16533107 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15318653)_(16292712_?)dup duplication Schizophrenia [RCV000416779] Chr16:15318653..16292712 [GRCh38]
Chr16:15412510..16386569 [GRCh37]
Chr16:15320011..16294070 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481747-16390970)x3 copy number gain See cases [RCV000448300] Chr16:15481747..16390970 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15481920-16388244)x1 copy number loss See cases [RCV000448658] Chr16:15481920..16388244 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 copy number loss See cases [RCV000448849] Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15031901)_(16512853_?)dup duplication Schizophrenia [RCV000416863] Chr16:15031901..16512853 [GRCh38]
Chr16:15125758..16606710 [GRCh37]
Chr16:15033259..16514211 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15054174-16327476)x3 copy number gain See cases [RCV000447738] Chr16:15054174..16327476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NC_000016.10:g.(?_15330513)_(16443434_?)del deletion Schizophrenia [RCV000416922] Chr16:15330513..16443434 [GRCh38]
Chr16:15424370..16537291 [GRCh37]
Chr16:15331871..16444792 [NCBI36]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16858476)x3 copy number gain See cases [RCV000448589] Chr16:14866283..16858476 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14905705-16391045)x1 copy number loss See cases [RCV000447968] Chr16:14905705..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327171)x1 copy number loss See cases [RCV000448453] Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14900182-16519932)x3 copy number gain See cases [RCV000448468] Chr16:14900182..16519932 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866284-16544419)x1 copy number loss See cases [RCV000510365] Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16328840)x3 copy number gain See cases [RCV000510529] Chr16:15449696..16328840 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain not provided [RCV000509488] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 not provided
GRCh37/hg19 16p13.11(chr16:14893032-16533107)x3 copy number gain See cases [RCV000510233] Chr16:14893032..16533107 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15766250)_(16185056_?)del deletion Pseudoxanthoma elasticum [RCV000499142] Chr16:15766250..16185056 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866284-16544419)x3 copy number gain See cases [RCV000510618] Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14888582-16544419)x3 copy number gain See cases [RCV000511651] Chr16:14888582..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14896385-16519643)x1 copy number loss See cases [RCV000511661] Chr16:14896385..16519643 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15450289-16544419)x3 copy number gain See cases [RCV000511929] Chr16:15450289..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 copy number gain See cases [RCV000511683] Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18181971)x1 copy number loss See cases [RCV000511758] Chr16:15481920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15936927-16288889)x1 copy number loss See cases [RCV000511576] Chr16:15936927..16288889 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14900182-16533242)x3 copy number gain See cases [RCV000511709] Chr16:14900182..16533242 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16516109)x3 copy number gain See cases [RCV000511420] Chr16:14866283..16516109 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14906734-16330672)x1 copy number loss See cases [RCV000511713] Chr16:14906734..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16529801)x3 copy number gain See cases [RCV000511718] Chr16:14892880..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14888582-16391910)x3 copy number gain See cases [RCV000511990] Chr16:14888582..16391910 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14899630-16458353)x1 copy number loss See cases [RCV000511863] Chr16:14899630..16458353 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16391909)x3 copy number gain See cases [RCV000511947] Chr16:15449696..16391909 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897625-16391910)x1 copy number loss See cases [RCV000512040] Chr16:14897625..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 copy number loss See cases [RCV000510875] Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15049968-16218828)x3 copy number gain See cases [RCV000511016] Chr16:15049968..16218828 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866284-16391910)x3 copy number gain See cases [RCV000511064] Chr16:14866284..16391910 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16319630)x1 copy number loss See cases [RCV000510829] Chr16:15449696..16319630 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15509728-16330672)x1 copy number loss See cases [RCV000510841] Chr16:15509728..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16529801)x3 copy number gain See cases [RCV000511276] Chr16:14866283..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.11(chr16:14906845-16515901)x1 copy number loss See cases [RCV000510780] Chr16:14906845..16515901 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16514368)x1 copy number loss See cases [RCV000511286] Chr16:15449696..16514368 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892914-16529555)x3 copy number gain See cases [RCV000511004] Chr16:14892914..16529555 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14893385-16544419)x3 copy number gain See cases [RCV000510967] Chr16:14893385..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.760G>A (p.Val254Met) single nucleotide variant Inborn genetic diseases [RCV003258621] Chr16:16036554 [GRCh38]
Chr16:16130411 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) single nucleotide variant not provided [RCV000578689] Chr16:16048222 [GRCh38]
Chr16:16142079 [GRCh37]
Chr16:16p13.11		 benign|conflicting interpretations of pathogenicity|not provided
GRCh37/hg19 16p13.11(chr16:15521713-16292235) copy number loss not provided [RCV000767582] Chr16:15521713..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15168667-16291983) copy number gain not provided [RCV000767606] Chr16:15168667..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_004996.4(ABCC1):c.3056A>G (p.Tyr1019Cys) single nucleotide variant Inborn genetic diseases [RCV003279899] Chr16:16111559 [GRCh38]
Chr16:16205416 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3 copy number gain not provided [RCV003312362] Chr16:14819740..16364041 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_004996.4(ABCC1):c.665G>C (p.Trp222Ser) single nucleotide variant Inborn genetic diseases [RCV003248273] Chr16:16033158 [GRCh38]
Chr16:16127015 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14900131-16529801)x3 copy number gain See cases [RCV000512246] Chr16:14900131..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14893032-16529801)x3 copy number gain See cases [RCV000512363] Chr16:14893032..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15450289-16508304)x3 copy number gain See cases [RCV000512364] Chr16:15450289..16508304 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16529876)x3 copy number gain See cases [RCV000512404] Chr16:15449696..16529876 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14900072-16544419)x3 copy number gain See cases [RCV000512370] Chr16:14900072..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15788690)_(16185034_?)del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000512639] Chr16:15788690..16185034 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15049968-16391910)x1 copy number loss See cases [RCV000512373] Chr16:15049968..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 copy number loss See cases [RCV000512560] Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15420069-16388244)x1 copy number loss See cases [RCV000512563] Chr16:15420069..16388244 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14901996-16544419)x3 copy number gain See cases [RCV000512570] Chr16:14901996..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15476223-16458423)x3 copy number gain See cases [RCV000512343] Chr16:15476223..16458423 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14892880-16544018)x3 copy number gain See cases [RCV000512602] Chr16:14892880..16544018 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.12-12.3(chr16:14780543-16855348)x1 copy number loss not provided [RCV000683767] Chr16:14780543..16855348 [GRCh37]
Chr16:16p13.12-12.3		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14780641-16498084)x1 copy number loss not provided [RCV000683768] Chr16:14780641..16498084 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain not provided [RCV000683773] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15351247-16458408)x1 copy number loss not provided [RCV000683775] Chr16:15351247..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15419480-16494783)x1 copy number loss not provided [RCV000683776] Chr16:15419480..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15495265-16330672)x1 copy number loss not provided [RCV000683779] Chr16:15495265..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16099145-16498084)x0 copy number loss not provided [RCV000683783] Chr16:16099145..16498084 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18181971)x1 copy number loss not provided [RCV000683772] Chr16:15316618..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16521406)x1 copy number loss not provided [RCV000683769] Chr16:14892880..16521406 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15318664-18778064)x1 copy number loss not provided [RCV000683774] Chr16:15318664..18778064 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 copy number loss not provided [RCV000683777] Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15495265-16309185)x1 copy number loss not provided [RCV000683778] Chr16:15495265..16309185 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15507898-16294847)x1 copy number loss not provided [RCV000683780] Chr16:15507898..16294847 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509406-18181971)x3 copy number gain not provided [RCV000683781] Chr16:15509406..18181971 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16458408)x1 copy number loss not provided [RCV000683770] Chr16:14897625..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14899676-16391045)x1 copy number loss not provided [RCV000683771] Chr16:14899676..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16060396-16294705)x3 copy number gain not provided [RCV000683782] Chr16:16060396..16294705 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_14780667)_(16415941_?)del deletion Schizophrenia [RCV000754170] Chr16:14780667..16415941 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754171] Chr16:15029830..16415941 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754172] Chr16:15030738..16517711 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754173] Chr16:15085515..18775195 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754174] Chr16:15279737..18291544 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754175] Chr16:15318125..16294378 [GRCh38]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15328439)_(16443962_?)del deletion Schizophrenia [RCV000754176] Chr16:15328439..16443962 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14759219-16419494)x1 copy number loss not provided [RCV000739062] Chr16:14759219..16419494 [GRCh37]
Chr16:16p13.12-13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x1 copy number loss not provided [RCV000739063] Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16303388)x1 copy number loss not provided [RCV000739064] Chr16:14968859..16303388 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16458748)x3 copy number gain not provided [RCV000739065] Chr16:14968859..16458748 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14975292-16306563)x1 copy number loss not provided [RCV000739066] Chr16:14975292..16306563 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15048643-16353166)x1 copy number loss not provided [RCV000739068] Chr16:15048643..16353166 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15051703-16343095)x3 copy number gain not provided [RCV000739069] Chr16:15051703..16343095 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15051703-16356750)x3 copy number gain not provided [RCV000739070] Chr16:15051703..16356750 [GRCh37]
Chr16:16p13.11		 likely benign
Single allele duplication Autism [RCV000754177] Chr16:15375457..16198187 [GRCh38]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_14757009)_(16763184_?)del deletion Autism [RCV000754169] Chr16:14757009..16763184 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
NM_004996.4(ABCC1):c.2492A>G (p.Tyr831Cys) single nucleotide variant Inborn genetic diseases [RCV003245833] Chr16:16090436 [GRCh38]
Chr16:16184293 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15551302-18306854)x3 copy number gain not provided [RCV000856643] Chr16:15551302..18306854 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15493046-18157612)x3 copy number gain See cases [RCV000790572] Chr16:15493046..18157612 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15259141-18361376)x3 copy number gain not provided [RCV000751597] Chr16:15259141..18361376 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15469950-18172311)x3 copy number gain not provided [RCV000751599] Chr16:15469950..18172311 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15935612-16363239)x3 copy number gain not provided [RCV000751600] Chr16:15935612..16363239 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:15935612-16649597)x3 copy number gain not provided [RCV000751601] Chr16:15935612..16649597 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:16071849-16077360)x1 copy number loss not provided [RCV000751606] Chr16:16071849..16077360 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.4452C>T (p.Ile1484=) single nucleotide variant not provided [RCV000947678] Chr16:16138523 [GRCh38]
Chr16:16232380 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.3171G>A (p.Leu1057=) single nucleotide variant not provided [RCV000958716] Chr16:16114857 [GRCh38]
Chr16:16208714 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_004996.4(ABCC1):c.3591-5C>T single nucleotide variant not provided [RCV000883384] Chr16:16124784 [GRCh38]
Chr16:16218641 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.1068G>A (p.Thr356=) single nucleotide variant not provided [RCV000969084] Chr16:16045863 [GRCh38]
Chr16:16139720 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:15125627-16286750) copy number gain not provided [RCV000767577] Chr16:15125627..16286750 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14932264-16484731)x3 copy number gain not provided [RCV000996425] Chr16:14932264..16484731 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:16099145-16295901)x0 copy number loss not provided [RCV001006782] Chr16:16099145..16295901 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14975292-16301530) copy number gain not provided [RCV000767574] Chr16:14975292..16301530 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14975292-16289532) copy number gain not provided [RCV000767576] Chr16:14975292..16289532 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14766480-16286694) copy number gain not provided [RCV000767573] Chr16:14766480..16286694 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15395312-16210889) copy number loss not provided [RCV000767579] Chr16:15395312..16210889 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15034210-16199736) copy number gain not provided [RCV000767668] Chr16:15034210..16199736 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15125627-16291983) copy number loss not provided [RCV000767695] Chr16:15125627..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767824] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15425965-16199736) copy number loss not provided [RCV000767843] Chr16:15425965..16199736 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_004996.4(ABCC1):c.1905C>A (p.Val635=) single nucleotide variant not provided [RCV000918293] Chr16:16071722 [GRCh38]
Chr16:16165579 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.2478G>A (p.Thr826=) single nucleotide variant not provided [RCV000918294] Chr16:16090422 [GRCh38]
Chr16:16184279 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.1911C>T (p.Asp637=) single nucleotide variant ABCC1-related condition [RCV003935936]|not provided [RCV000960963] Chr16:16071728 [GRCh38]
Chr16:16165585 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.1998C>T (p.Phe666=) single nucleotide variant not provided [RCV000927046] Chr16:16079361 [GRCh38]
Chr16:16173218 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767578] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15493046-16291983) copy number loss not provided [RCV000767580] Chr16:15493046..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15129970-16284116) copy number gain not provided [RCV000767605] Chr16:15129970..16284116 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15493046-16053729) copy number loss not provided [RCV000767581] Chr16:15493046..16053729 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15548310-17988303) copy number loss not provided [RCV000767583] Chr16:15548310..17988303 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767763] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_004996.4(ABCC1):c.3876A>G (p.Arg1292=) single nucleotide variant not provided [RCV000937509] Chr16:16131845 [GRCh38]
Chr16:16225702 [GRCh37]
Chr16:16p13.11		 likely benign
Single allele deletion Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV000844925] Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11		 not provided
GRCh37/hg19 16p13.12-13.11(chr16:14770672-16388343)x1 copy number loss not provided [RCV001006768] Chr16:14770672..16388343 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14900182-16529801)x3 copy number gain not provided [RCV001006775] Chr16:14900182..16529801 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16514111)x1 copy number loss not provided [RCV001006772] Chr16:14897625..16514111 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15416364-18231275)x1 copy number loss not provided [RCV001006778] Chr16:15416364..18231275 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16367932)x3 copy number gain not provided [RCV000996424] Chr16:14927709..16367932 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.12-13.11(chr16:14780543-16391045)x1 copy number loss not provided [RCV001006770] Chr16:14780543..16391045 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
NM_004996.4(ABCC1):c.2606A>G (p.Tyr869Cys) single nucleotide variant Inborn genetic diseases [RCV003252975] Chr16:16090550 [GRCh38]
Chr16:16184407 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3780C>T (p.Ala1260=) single nucleotide variant not provided [RCV000952743] Chr16:16125872 [GRCh38]
Chr16:16219729 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.2565G>T (p.Leu855=) single nucleotide variant not provided [RCV000955130] Chr16:16090509 [GRCh38]
Chr16:16184366 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.4218C>T (p.Ala1406=) single nucleotide variant not provided [RCV000955131] Chr16:16136570 [GRCh38]
Chr16:16230427 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.2121C>T (p.Ser707=) single nucleotide variant not provided [RCV000919036] Chr16:16083371 [GRCh38]
Chr16:16177228 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.3390+8G>A single nucleotide variant not provided [RCV000886325] Chr16:16115084 [GRCh38]
Chr16:16208941 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.3436G>A (p.Val1146Ile) single nucleotide variant not provided [RCV000887042] Chr16:16122020 [GRCh38]
Chr16:16215877 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.2286C>T (p.Gly762=) single nucleotide variant not provided [RCV000888547] Chr16:16083536 [GRCh38]
Chr16:16177393 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_004996.4(ABCC1):c.1381-5C>G single nucleotide variant not provided [RCV000957376] Chr16:16052719 [GRCh38]
Chr16:16146576 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.3018C>T (p.Asn1006=) single nucleotide variant not provided [RCV000957378] Chr16:16111521 [GRCh38]
Chr16:16205378 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.3789G>A (p.Arg1263=) single nucleotide variant not provided [RCV000957379] Chr16:16125881 [GRCh38]
Chr16:16219738 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.3726G>A (p.Thr1242=) single nucleotide variant not provided [RCV000912482] Chr16:16125818 [GRCh38]
Chr16:16219675 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.2583C>T (p.Ala861=) single nucleotide variant not provided [RCV000934308] Chr16:16090527 [GRCh38]
Chr16:16184384 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.2655C>T (p.Gly885=) single nucleotide variant not provided [RCV000957377] Chr16:16102637 [GRCh38]
Chr16:16196494 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:15481748-16330672)x1 copy number loss not provided [RCV002472866] Chr16:15481748..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449697-16391045)x1 copy number loss not provided [RCV002472615] Chr16:15449697..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16309046)x3 copy number gain not provided [RCV002472724] Chr16:15509407..16309046 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15476224-16330672)x1 copy number loss not provided [RCV002472633] Chr16:15476224..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.11(chr16:15509592-16309165)x3 copy number gain not provided [RCV002472723] Chr16:15509592..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15481920-16516109)x3 copy number gain not provided [RCV001006780] Chr16:15481920..16516109 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:16052972-16330627)x1 copy number loss not provided [RCV001006781] Chr16:16052972..16330627 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3 copy number gain See cases [RCV001194544] Chr16:14975292..16291099 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NC_000016.10:g.(?_15703981)_(16208869_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032716] Chr16:15797838..16302726 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_004996.4(ABCC1):c.1769A>G (p.Asn590Ser) single nucleotide variant Hearing loss, autosomal dominant 77 [RCV001194461] Chr16:16068247 [GRCh38]
Chr16:16162104 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14900072-16837613)x3 copy number gain not provided [RCV001006773] Chr16:14900072..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14770672-16458408)x1 copy number loss not provided [RCV001006769] Chr16:14770672..16458408 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14893566-16330627)x1 copy number loss not provided [RCV001006771] Chr16:14893566..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15154115-16276115) copy number loss Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV001249391] Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11		 not provided
GRCh37/hg19 16p13.11-12.3(chr16:14900168-16869135)x3 copy number gain not provided [RCV001006774] Chr16:14900168..16869135 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss 16p13.11 microdeletion syndrome [RCV001824940]|not provided [RCV001249387] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 no classifications from unflagged records|not provided
GRCh37/hg19 16p13.11(chr16:15124782-16291779)x1 copy number loss not provided [RCV001537888] Chr16:15124782..16291779 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.11(chr16:16146794-16293305)x3 copy number gain not provided [RCV001259249] Chr16:16146794..16293305 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15417030-16544419)x3 copy number gain not provided [RCV001259250] Chr16:15417030..16544419 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15127985-16527476)x3 copy number gain not provided [RCV001259251] Chr16:15127985..16527476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14929038-16309046)x3 copy number gain not provided [RCV001259253] Chr16:14929038..16309046 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18164698)x3 copy number gain not provided [RCV001259257] Chr16:15481920..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1 copy number loss not provided [RCV001259258] Chr16:15375911..18198455 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-16837613)x3 copy number gain not provided [RCV001259259] Chr16:15481920..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11(chr16:14927857-16537664) copy number gain Autism [RCV002280694] Chr16:14927857..16537664 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15058820-16328840)x3 copy number gain not provided [RCV001259252] Chr16:15058820..16328840 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509824-16328781)x3 copy number gain not provided [RCV001259254] Chr16:15509824..16328781 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3 copy number gain not provided [RCV001259255] Chr16:15193982..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3 copy number gain not provided [RCV001259256] Chr16:15316618..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:15492317-16292235) copy number gain Autism with high cognitive abilities [RCV001291950] Chr16:15492317..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14887031-16308753)x3 copy number gain not provided [RCV001537889] Chr16:14887031..16308753 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1 copy number loss not provided [RCV001281366] Chr16:14968855..16251122 [GRCh37]
Chr16:16p13.11		 risk factor
Single allele deletion Epilepsy [RCV001293377] Chr16:14968859..16363239 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_15758636)_(16292059_?)dup duplication not provided [RCV001351206] Chr16:15758636..16292059 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15048751-16292235) copy number loss Abnormality of the head [RCV001291975] Chr16:15048751..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3 copy number gain See cases [RCV002246173] Chr16:14886858..16328857 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_004996.4(ABCC1):c.2662G>A (p.Gly888Ser) single nucleotide variant Inborn genetic diseases [RCV003252288] Chr16:16102644 [GRCh38]
Chr16:16196501 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15124581-16290348)x3 copy number gain not provided [RCV001795550] Chr16:15124581..16290348 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533890) copy number gain 16p13.11 microduplication syndrome [RCV002280703] Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897372-16513267) copy number loss Seizure [RCV002280701] Chr16:14897372..16513267 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16544222) copy number gain 16p13.11 microduplication syndrome [RCV002280702] Chr16:14892880..16544222 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15418575-16494783)x1 copy number loss not provided [RCV001827596] Chr16:15418575..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1 copy number loss not provided [RCV001834196] Chr16:15375912..16390970 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15936927-16328840)x3 copy number gain not provided [RCV001834322] Chr16:15936927..16328840 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15758636)_(17564653_?)dup duplication Desbuquois dysplasia 1 [RCV001919069]|not provided [RCV003107892] Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance|no classifications from unflagged records
NC_000016.9:g.(?_15758636)_(17564653_?)del deletion Desbuquois dysplasia 1 [RCV003111473] Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15551302-16194578)x1 copy number loss Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV002279760] Chr16:15551302..16194578 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_004996.4(ABCC1):c.1988+7C>T single nucleotide variant not provided [RCV002276025] Chr16:16076408 [GRCh38]
Chr16:16170265 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725) copy number gain Cardiomyopathy [RCV002280695] Chr16:15316618..18191725 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14899676-16516109) copy number loss Hydrocephalus [RCV002280699] Chr16:14899676..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16494783) copy number loss 16p13.11 microdeletion syndrome [RCV002280700] Chr16:14897625..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3 copy number gain See cases [RCV002286336] Chr16:15416917..18770833 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_004996.4(ABCC1):c.2012G>T (p.Gly671Val) single nucleotide variant Atorvastatin response [RCV002291809] Chr16:16079375 [GRCh38]
Chr16:16173232 [GRCh37]
Chr16:16p13.11		 drug response
GRCh37/hg19 16p13.11(chr16:15416716-16529801)x3 copy number gain See cases [RCV002287559] Chr16:15416716..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.659C>G (p.Thr220Ser) single nucleotide variant Inborn genetic diseases [RCV003304615] Chr16:16033152 [GRCh38]
Chr16:16127009 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15509407-16319630)x3 copy number gain not provided [RCV002472542] Chr16:15509407..16319630 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14925995-16309165)x3 copy number gain not provided [RCV002473711] Chr16:14925995..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509729-16255865)x3 copy number gain not provided [RCV002472817] Chr16:15509729..16255865 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16330672)x3 copy number gain not provided [RCV002474521] Chr16:15509407..16330672 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15481921-16330672)x3 copy number gain not provided [RCV002474550] Chr16:15481921..16330672 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3 copy number gain not provided [RCV002473916] Chr16:14365745..17052798 [GRCh37]
Chr16:16p13.12-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16527476)x3 copy number gain not provided [RCV002474571] Chr16:15509407..16527476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14780544-16330627)x1 copy number loss not provided [RCV002473940] Chr16:14780544..16330627 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3 copy number gain not provided [RCV002472531] Chr16:15316939..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15423704-16327961)x3 copy number gain not provided [RCV002472543] Chr16:15423704..16327961 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16330477)x3 copy number gain not provided [RCV002472550] Chr16:15509407..16330477 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3 copy number gain not provided [RCV002511850] Chr16:14927709..16484731 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_004996.4(ABCC1):c.3901C>T (p.Arg1301Cys) single nucleotide variant not provided [RCV002511835] Chr16:16131870 [GRCh38]
Chr16:16225727 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.766G>A (p.Val256Ile) single nucleotide variant Inborn genetic diseases [RCV002883123] Chr16:16036560 [GRCh38]
Chr16:16130417 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1726A>T (p.Ile576Phe) single nucleotide variant Inborn genetic diseases [RCV002683843] Chr16:16068204 [GRCh38]
Chr16:16162061 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.250G>T (p.Val84Phe) single nucleotide variant Inborn genetic diseases [RCV002974498] Chr16:16009800 [GRCh38]
Chr16:16103657 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3962A>G (p.Glu1321Gly) single nucleotide variant Inborn genetic diseases [RCV002868080] Chr16:16131931 [GRCh38]
Chr16:16225788 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.682A>G (p.Ile228Val) single nucleotide variant Inborn genetic diseases [RCV002949944] Chr16:16036476 [GRCh38]
Chr16:16130333 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.262G>C (p.Asp88His) single nucleotide variant Inborn genetic diseases [RCV002888905] Chr16:16009812 [GRCh38]
Chr16:16103669 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.2693A>G (p.Asn898Ser) single nucleotide variant Inborn genetic diseases [RCV002758822] Chr16:16102675 [GRCh38]
Chr16:16196532 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.2675A>C (p.Glu892Ala) single nucleotide variant Inborn genetic diseases [RCV002763423] Chr16:16102657 [GRCh38]
Chr16:16196514 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.279C>A (p.Phe93Leu) single nucleotide variant Inborn genetic diseases [RCV002830352] Chr16:16009829 [GRCh38]
Chr16:16103686 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.4537G>A (p.Asp1513Asn) single nucleotide variant Inborn genetic diseases [RCV002983832] Chr16:16141222 [GRCh38]
Chr16:16235079 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.2167C>G (p.Arg723Gly) single nucleotide variant Inborn genetic diseases [RCV002954557] Chr16:16083417 [GRCh38]
Chr16:16177274 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3134C>T (p.Ser1045Phe) single nucleotide variant Inborn genetic diseases [RCV002873294] Chr16:16114820 [GRCh38]
Chr16:16208677 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1280T>C (p.Met427Thr) single nucleotide variant Inborn genetic diseases [RCV002940126] Chr16:16048203 [GRCh38]
Chr16:16142060 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.4037C>T (p.Ser1346Phe) single nucleotide variant Inborn genetic diseases [RCV002812507] Chr16:16134420 [GRCh38]
Chr16:16228277 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.2929C>T (p.Leu977Phe) single nucleotide variant Inborn genetic diseases [RCV002648286] Chr16:16111432 [GRCh38]
Chr16:16205289 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.158A>G (p.Tyr53Cys) single nucleotide variant Inborn genetic diseases [RCV002961784] Chr16:16007925 [GRCh38]
Chr16:16101782 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.50A>T (p.Asp17Val) single nucleotide variant Inborn genetic diseases [RCV002673995] Chr16:16007817 [GRCh38]
Chr16:16101674 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3970G>A (p.Gly1324Ser) single nucleotide variant Inborn genetic diseases [RCV002675285] Chr16:16134353 [GRCh38]
Chr16:16228210 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1915G>A (p.Gly639Arg) single nucleotide variant Inborn genetic diseases [RCV002747782] Chr16:16076328 [GRCh38]
Chr16:16170185 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3319G>A (p.Val1107Ile) single nucleotide variant Inborn genetic diseases [RCV002792715] Chr16:16115005 [GRCh38]
Chr16:16208862 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.49G>T (p.Asp17Tyr) single nucleotide variant Inborn genetic diseases [RCV002670467] Chr16:16007816 [GRCh38]
Chr16:16101673 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.246G>T (p.Trp82Cys) single nucleotide variant Inborn genetic diseases [RCV002944343] Chr16:16009796 [GRCh38]
Chr16:16103653 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3518G>A (p.Arg1173His) single nucleotide variant Inborn genetic diseases [RCV002677859] Chr16:16122102 [GRCh38]
Chr16:16215959 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.1879C>G (p.Pro627Ala) single nucleotide variant Inborn genetic diseases [RCV003194932] Chr16:16071696 [GRCh38]
Chr16:16165553 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.2756C>G (p.Ser919Cys) single nucleotide variant Inborn genetic diseases [RCV003211990] Chr16:16106758 [GRCh38]
Chr16:16200615 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.2600G>A (p.Arg867His) single nucleotide variant Inborn genetic diseases [RCV003217041] Chr16:16090544 [GRCh38]
Chr16:16184401 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.577G>C (p.Asp193His) single nucleotide variant Inborn genetic diseases [RCV003188784] Chr16:16016583 [GRCh38]
Chr16:16110440 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16678513) copy number gain Anomalous pulmonary venous return [RCV003223578] Chr16:14816348..16678513 [GRCh38]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.14683149_16205174dup duplication not specified [RCV003225664] Chr16:14683149..16205174 [GRCh38]
Chr16:16p13.12-13.11		 uncertain significance
NM_004996.4(ABCC1):c.1005C>T (p.His335=) single nucleotide variant not provided [RCV003222862] Chr16:16044645 [GRCh38]
Chr16:16138502 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.2935A>G (p.Ile979Val) single nucleotide variant Inborn genetic diseases [RCV003265918] Chr16:16111438 [GRCh38]
Chr16:16205295 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3 copy number gain 16p13.11 microduplication syndrome [RCV003329524] Chr16:15125542..16388672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1 copy number loss Autosomal recessive inherited pseudoxanthoma elasticum [RCV003329506] Chr16:15475455..16308356 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329551] Chr16:15489453..18321582 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329546] Chr16:14853752..16666672 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_004996.4(ABCC1):c.3644C>T (p.Ala1215Val) single nucleotide variant Inborn genetic diseases [RCV003371979] Chr16:16124842 [GRCh38]
Chr16:16218699 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3557A>G (p.Gln1186Arg) single nucleotide variant Inborn genetic diseases [RCV003351977] Chr16:16122141 [GRCh38]
Chr16:16215998 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.557T>G (p.Leu186Arg) single nucleotide variant Inborn genetic diseases [RCV003365109] Chr16:16016563 [GRCh38]
Chr16:16110420 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3237G>T (p.Glu1079Asp) single nucleotide variant Inborn genetic diseases [RCV003375769] Chr16:16114923 [GRCh38]
Chr16:16208780 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15460510-16443142)x3 copy number gain not provided [RCV003456960] Chr16:15460510..16443142 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_004996.4(ABCC1):c.1356C>G (p.Ile452Met) single nucleotide variant Inborn genetic diseases [RCV003368604] Chr16:16048279 [GRCh38]
Chr16:16142136 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.853C>A (p.Pro285Thr) single nucleotide variant Inborn genetic diseases [RCV003386576] Chr16:16044493 [GRCh38]
Chr16:16138350 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3 copy number gain not provided [RCV003485099] Chr16:15058821..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15324776-16294705)x1 copy number loss not provided [RCV003483276] Chr16:15324776..16294705 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15358446-16494783)x1 copy number loss not provided [RCV003483277] Chr16:15358446..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481748-16391045)x1 copy number loss not provided [RCV003483279] Chr16:15481748..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16059881-16309165)x3 copy number gain not provided [RCV003485104] Chr16:16059881..16309165 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15509592-16873547)x3 copy number gain not provided [RCV003485103] Chr16:15509592..16873547 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15450290-16458408)x1 copy number loss not provided [RCV003483278] Chr16:15450290..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3 copy number gain not provided [RCV003485098] Chr16:15054346..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15507899-16388359)x3 copy number gain not provided [RCV003485101] Chr16:15507899..16388359 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3 copy number gain not provided [RCV003485102] Chr16:15509407..18779589 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_004996.4(ABCC1):c.4296C>T (p.Val1432=) single nucleotide variant not provided [RCV003426607] Chr16:16138367 [GRCh38]
Chr16:16232224 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.4377C>T (p.Ala1459=) single nucleotide variant not provided [RCV003411279] Chr16:16138448 [GRCh38]
Chr16:16232305 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1 copy number loss not provided [RCV003419542] Chr16:14927709..16364041 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_004996.4(ABCC1):c.2750CCT[2] (p.Ser919del) microsatellite not provided [RCV003426605] Chr16:16106750..16106752 [GRCh38]
Chr16:16200607..16200609 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.3117C>T (p.Ile1039=) single nucleotide variant not provided [RCV003426606] Chr16:16114803 [GRCh38]
Chr16:16208660 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.2598G>C (p.Leu866=) single nucleotide variant not provided [RCV003417661] Chr16:16090542 [GRCh38]
Chr16:16184399 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.3336G>A (p.Thr1112=) single nucleotide variant not provided [RCV003417662] Chr16:16115022 [GRCh38]
Chr16:16208879 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh38/hg38 16p13.11(chr16:15399656-16194269) copy number loss Autism spectrum disorder [RCV003883417] Chr16:15399656..16194269 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191) copy number loss Autism spectrum disorder [RCV003883423] Chr16:15184811..18708191 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15516148-16289059)x3 copy number gain not specified [RCV003986318] Chr16:15516148..16289059 [GRCh37]
Chr16:16p13.11		 likely pathogenic|low penetrance
GRCh37/hg19 16p13.11(chr16:16222353-16239174)x1 copy number loss not specified [RCV003987186] Chr16:16222353..16239174 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15126890-16289059)x3 copy number gain not specified [RCV003986319] Chr16:15126890..16289059 [GRCh37]
Chr16:16p13.11		 likely pathogenic|low penetrance
GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3 copy number gain not specified [RCV003987137] Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3 copy number gain not specified [RCV003987147] Chr16:14892880..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3 copy number gain not specified [RCV003987171] Chr16:14892713..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 copy number gain not specified [RCV003987170] Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_004996.4(ABCC1):c.4391C>T (p.Thr1464Met) single nucleotide variant not provided [RCV003884062] Chr16:16138462 [GRCh38]
Chr16:16232319 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_004996.4(ABCC1):c.4441G>A (p.Val1481Ile) single nucleotide variant ABCC1-related condition [RCV003943837] Chr16:16138512 [GRCh38]
Chr16:16232369 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.3346G>A (p.Ala1116Thr) single nucleotide variant ABCC1-related condition [RCV003912311] Chr16:16115032 [GRCh38]
Chr16:16208889 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.185G>A (p.Arg62Gln) single nucleotide variant ABCC1-related condition [RCV003961643] Chr16:16007952 [GRCh38]
Chr16:16101809 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.3019G>A (p.Gly1007Arg) single nucleotide variant ABCC1-related condition [RCV003967002] Chr16:16111522 [GRCh38]
Chr16:16205379 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.854C>T (p.Pro285Leu) single nucleotide variant ABCC1-related condition [RCV003909484] Chr16:16044494 [GRCh38]
Chr16:16138351 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1 copy number loss not provided [RCV003885473] Chr16:14927578..16481355 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3 copy number gain not provided [RCV003885472] Chr16:14858860..16367932 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_004996.4(ABCC1):c.275C>T (p.Ser92Phe) single nucleotide variant ABCC1-related condition [RCV003971798] Chr16:16009825 [GRCh38]
Chr16:16103682 [GRCh37]
Chr16:16p13.11		 benign
NM_004996.4(ABCC1):c.4202C>T (p.Thr1401Met) single nucleotide variant ABCC1-related condition [RCV003932199] Chr16:16136554 [GRCh38]
Chr16:16230411 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.1898G>A (p.Arg633Gln) single nucleotide variant ABCC1-related condition [RCV003932297] Chr16:16071715 [GRCh38]
Chr16:16165572 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1 copy number loss not provided [RCV003885475] Chr16:15458733..18188719 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_004996.4(ABCC1):c.3887G>A (p.Arg1296Gln) single nucleotide variant not provided [RCV003885672] Chr16:16131856 [GRCh38]
Chr16:16225713 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.1915G>T (p.Gly639Trp) single nucleotide variant ABCC1-related condition [RCV003913863] Chr16:16076328 [GRCh38]
Chr16:16170185 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.3308G>A (p.Gly1103Asp) single nucleotide variant ABCC1-related condition [RCV003911640] Chr16:16114994 [GRCh38]
Chr16:16208851 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.1235A>G (p.Asn412Ser) single nucleotide variant ABCC1-related condition [RCV003944084] Chr16:16048158 [GRCh38]
Chr16:16142015 [GRCh37]
Chr16:16p13.11		 likely benign
NM_004996.4(ABCC1):c.3032A>G (p.His1011Arg) single nucleotide variant Inborn genetic diseases [RCV003378488] Chr16:16111535 [GRCh38]
Chr16:16205392 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3 copy number gain See cases [RCV000137408] Chr16:14783830..16741305 [GRCh38]
Chr16:14877687..16835162 [GRCh37]
Chr16:14785188..16742663 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR134hsa-miR-134-5pMirtarbaseexternal_infoqRT-PCR//Western blot//Northern blotFunctional MTI20371173
MIR345hsa-miR-345-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20099276
MIR345hsa-miR-345-5pOncomiRDBexternal_infoNANA20099276
MIR7-2hsa-miR-7-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20099276
MIR7-2hsa-miR-7-5pOncomiRDBexternal_infoNANA20099276
MIR7-1hsa-miR-7-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20099276
MIR326hsa-miR-326OncomiRDBexternal_infoNANA19883630
MIR7-1hsa-miR-7-5pOncomiRDBexternal_infoNANA20099276

Predicted Target Of
Summary Value
Count of predictions:6877
Count of miRNA genes:1037
Interacting mature miRNAs:1244
Transcripts:ENST00000345148, ENST00000346370, ENST00000349029, ENST00000351154, ENST00000399408, ENST00000399410, ENST00000572053, ENST00000572882, ENST00000574224, ENST00000574761, ENST00000575422, ENST00000576557
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH65306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,208,726 - 16,208,853UniSTSGRCh37
Build 361616,116,227 - 16,116,354RGDNCBI36
Celera1615,888,855 - 15,888,982RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,602,615 - 15,602,742UniSTS
RH64912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,236,612 - 16,236,741UniSTSGRCh37
Build 361616,144,113 - 16,144,242RGDNCBI36
Celera1615,916,766 - 15,916,895RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,630,574 - 15,630,703UniSTS
G63601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,124,724 - 16,125,070UniSTSGRCh37
Build 361616,032,225 - 16,032,571RGDNCBI36
Celera1615,804,848 - 15,805,194RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,518,692 - 15,519,038UniSTS
TNG Radiation Hybrid Map169168.0UniSTS
SHGC-147442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,133,621 - 16,133,909UniSTSGRCh37
Build 361616,041,122 - 16,041,410RGDNCBI36
Celera1615,813,758 - 15,814,046RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,527,597 - 15,527,885UniSTS
TNG Radiation Hybrid Map169168.0UniSTS
SHGC-60500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,150,141 - 16,150,250UniSTSGRCh37
Build 361616,057,642 - 16,057,751RGDNCBI36
Celera1615,830,278 - 15,830,387RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,544,013 - 15,544,122UniSTS
TNG Radiation Hybrid Map169194.0UniSTS
ABCC1_679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,235,489 - 16,236,276UniSTSGRCh37
Build 361616,142,990 - 16,143,777RGDNCBI36
Celera1615,915,642 - 15,916,429RGD
HuRef1615,629,450 - 15,630,237UniSTS
SHGC-12494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,235,140 - 16,235,339UniSTSGRCh37
Build 361616,142,641 - 16,142,840RGDNCBI36
Celera1615,915,293 - 15,915,492RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,629,101 - 15,629,300UniSTS
Stanford-G3 RH Map16836.0UniSTS
NCBI RH Map16154.1UniSTS
GeneMap99-G3 RH Map16796.0UniSTS
SHGC-5825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,153,895 - 16,154,010UniSTSGRCh37
Build 361616,061,396 - 16,061,511RGDNCBI36
Celera1615,834,032 - 15,834,147RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,547,767 - 15,547,882UniSTS
TNG Radiation Hybrid Map169143.0UniSTS
Stanford-G3 RH Map16844.0UniSTS
NCBI RH Map16153.1UniSTS
D16S2586E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,236,590 - 16,236,768UniSTSGRCh37
Build 361616,144,091 - 16,144,269RGDNCBI36
Celera1615,916,744 - 15,916,922RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,630,552 - 15,630,730UniSTS
GeneMap99-GB4 RH Map16176.25UniSTS
NCBI RH Map16139.9UniSTS
RH79017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,163,342 - 16,163,491UniSTSGRCh37
Build 361616,070,843 - 16,070,992RGDNCBI36
Celera1615,843,478 - 15,843,627RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,557,214 - 15,557,363UniSTS
GeneMap99-GB4 RH Map16169.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2277 1694 1254 173 1323 63 3999 1607 1101 281 1447 1593 125 1150 2478 3 1
Low 162 1296 467 446 627 397 358 590 2604 138 13 19 50 1 54 310 3 1
Below cutoff 1 5 5 1 5 29

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF017145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ003198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF419769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ917064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ917065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ917066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ917067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM970029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ859720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ859721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ859722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ859723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U91318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000399408   ⟹   ENSP00000382340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,949,577 - 16,143,074 (+)Ensembl
RefSeq Acc Id: ENST00000399410   ⟹   ENSP00000382342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,949,616 - 16,143,053 (+)Ensembl
RefSeq Acc Id: ENST00000572053   ⟹   ENSP00000459693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,102,683 - 16,115,069 (+)Ensembl
RefSeq Acc Id: ENST00000572882   ⟹   ENSP00000461615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,949,577 - 16,143,074 (+)Ensembl
RefSeq Acc Id: ENST00000574224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,949,138 - 16,057,159 (+)Ensembl
RefSeq Acc Id: ENST00000574761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,106,526 - 16,122,103 (+)Ensembl
RefSeq Acc Id: ENST00000575422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,076,174 - 16,111,461 (+)Ensembl
RefSeq Acc Id: ENST00000576557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,097,992 - 16,106,868 (+)Ensembl
RefSeq Acc Id: ENST00000676806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,120,577 - 16,143,036 (+)Ensembl
RefSeq Acc Id: ENST00000677164   ⟹   ENSP00000502873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,949,577 - 16,143,257 (+)Ensembl
RefSeq Acc Id: ENST00000678422   ⟹   ENSP00000503954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,949,577 - 16,143,257 (+)Ensembl
RefSeq Acc Id: ENST00000679043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,007,816 - 16,057,571 (+)Ensembl
RefSeq Acc Id: NM_004996   ⟹   NP_004987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
GRCh371616,043,434 - 16,236,931 (+)ENTREZGENE
GRCh371616,043,434 - 16,236,931 (+)NCBI
Build 361615,950,935 - 16,144,432 (+)NCBI Archive
HuRef1615,436,705 - 15,630,893 (+)ENTREZGENE
CHM1_11616,185,916 - 16,321,192 (+)NCBI
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019862   ⟹   NP_063915
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_011522497   ⟹   XP_011520799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381616,006,755 - 16,143,053 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023237   ⟹   XP_016878726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,992,148 - 16,143,053 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434131   ⟹   XP_047290087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,970,750 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434132   ⟹   XP_047290088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,970,750 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434133   ⟹   XP_047290089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,970,750 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434134   ⟹   XP_047290090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,143 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434135   ⟹   XP_047290091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,970,750 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434136   ⟹   XP_047290092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,970,750 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434137   ⟹   XP_047290093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,970,750 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434138   ⟹   XP_047290094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434140   ⟹   XP_047290096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434141   ⟹   XP_047290097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434142   ⟹   XP_047290098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,970,750 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434144   ⟹   XP_047290100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,970,750 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434145   ⟹   XP_047290101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434146   ⟹   XP_047290102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434147   ⟹   XP_047290103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434148   ⟹   XP_047290104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434149   ⟹   XP_047290105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434151   ⟹   XP_047290107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434152   ⟹   XP_047290108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434153   ⟹   XP_047290109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_047434154   ⟹   XP_047290110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,616 - 16,143,053 (+)NCBI
RefSeq Acc Id: XM_054380348   ⟹   XP_054236323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380349   ⟹   XP_054236324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,995,768 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380350   ⟹   XP_054236325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380351   ⟹   XP_054236326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380352   ⟹   XP_054236327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,068 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380353   ⟹   XP_054236328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380354   ⟹   XP_054236329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380355   ⟹   XP_054236330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01616,010,244 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380356   ⟹   XP_054236331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380357   ⟹   XP_054236332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380358   ⟹   XP_054236333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380359   ⟹   XP_054236334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380360   ⟹   XP_054236335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380361   ⟹   XP_054236336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380362   ⟹   XP_054236337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380363   ⟹   XP_054236338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380364   ⟹   XP_054236339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380365   ⟹   XP_054236340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380366   ⟹   XP_054236341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380367   ⟹   XP_054236342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,365 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380368   ⟹   XP_054236343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,975,684 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380369   ⟹   XP_054236344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,259 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380370   ⟹   XP_054236345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380371   ⟹   XP_054236346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380372   ⟹   XP_054236347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380373   ⟹   XP_054236348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380374   ⟹   XP_054236349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380375   ⟹   XP_054236350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380376   ⟹   XP_054236351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,348 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380377   ⟹   XP_054236352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,288 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380378   ⟹   XP_054236353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380379   ⟹   XP_054236354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,954,559 - 16,147,908 (+)NCBI
RefSeq Acc Id: XM_054380380   ⟹   XP_054236355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01616,038,304 - 16,147,908 (+)NCBI
Protein Sequences
Protein RefSeqs NP_004987 (Get FASTA)   NCBI Sequence Viewer  
  NP_063915 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520799 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878726 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290087 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290088 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290089 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290090 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290091 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290092 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290093 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290094 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290096 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290097 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290098 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290100 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290101 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290102 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290103 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290104 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290105 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290107 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290108 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290109 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290110 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185060 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185062 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185067 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236323 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236324 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236325 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236326 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236327 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236328 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236329 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236330 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236331 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236332 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236333 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236334 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236335 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236336 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236337 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236338 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236339 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236340 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236341 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236342 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236343 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236344 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236345 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236346 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236347 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236348 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236349 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236350 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236351 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236352 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236353 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236354 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236355 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB46616 (Get FASTA)   NCBI Sequence Viewer  
  AAB82786 (Get FASTA)   NCBI Sequence Viewer  
  AAB83979 (Get FASTA)   NCBI Sequence Viewer  
  AAB83980 (Get FASTA)   NCBI Sequence Viewer  
  AAB83981 (Get FASTA)   NCBI Sequence Viewer  
  AAB83982 (Get FASTA)   NCBI Sequence Viewer  
  AAB83983 (Get FASTA)   NCBI Sequence Viewer  
  AAC05808 (Get FASTA)   NCBI Sequence Viewer  
  AAC15784 (Get FASTA)   NCBI Sequence Viewer  
  AAH01636 (Get FASTA)   NCBI Sequence Viewer  
  ABN79590 (Get FASTA)   NCBI Sequence Viewer  
  AEK86268 (Get FASTA)   NCBI Sequence Viewer  
  AEK86269 (Get FASTA)   NCBI Sequence Viewer  
  AEK86270 (Get FASTA)   NCBI Sequence Viewer  
  AEK86271 (Get FASTA)   NCBI Sequence Viewer  
  BAD92357 (Get FASTA)   NCBI Sequence Viewer  
  CAH18691 (Get FASTA)   NCBI Sequence Viewer  
  EAW53936 (Get FASTA)   NCBI Sequence Viewer  
  EAW53937 (Get FASTA)   NCBI Sequence Viewer  
  EAW53938 (Get FASTA)   NCBI Sequence Viewer  
  EAW53939 (Get FASTA)   NCBI Sequence Viewer  
  EAW53940 (Get FASTA)   NCBI Sequence Viewer  
  EAW53941 (Get FASTA)   NCBI Sequence Viewer  
  EAW53942 (Get FASTA)   NCBI Sequence Viewer  
  EAW53943 (Get FASTA)   NCBI Sequence Viewer  
  EAW53944 (Get FASTA)   NCBI Sequence Viewer  
  EAW53945 (Get FASTA)   NCBI Sequence Viewer  
  EAW53946 (Get FASTA)   NCBI Sequence Viewer  
  EAW53947 (Get FASTA)   NCBI Sequence Viewer  
  EAW53948 (Get FASTA)   NCBI Sequence Viewer  
  EAW53949 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000382340
  ENSP00000382340.4
  ENSP00000382342
  ENSP00000382342.3
  ENSP00000461615
  ENSP00000461615.2
  ENSP00000478647.1
  ENSP00000481080.2
  ENSP00000483316.1
  ENSP00000502873
  ENSP00000502873.1
  ENSP00000503954.1
GenBank Protein P33527 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004987   ⟸   NM_004996
- Peptide Label: isoform 1
- UniProtKB: Q9UQ99 (UniProtKB/Swiss-Prot),   Q9UQ97 (UniProtKB/Swiss-Prot),   Q59GI9 (UniProtKB/Swiss-Prot),   P78419 (UniProtKB/Swiss-Prot),   O43333 (UniProtKB/Swiss-Prot),   O14819 (UniProtKB/Swiss-Prot),   C9JPJ4 (UniProtKB/Swiss-Prot),   A3RJX2 (UniProtKB/Swiss-Prot),   Q9UQA0 (UniProtKB/Swiss-Prot),   P33527 (UniProtKB/Swiss-Prot),   I3L4X2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520799   ⟸   XM_011522497
- Peptide Label: isoform X8
- UniProtKB: I3L4X2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878726   ⟸   XM_017023237
- Peptide Label: isoform X2
- UniProtKB: I3L4X2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382342   ⟸   ENST00000399410
RefSeq Acc Id: ENSP00000382340   ⟸   ENST00000399408
RefSeq Acc Id: ENSP00000461615   ⟸   ENST00000572882
RefSeq Acc Id: ENSP00000459693   ⟸   ENST00000572053
RefSeq Acc Id: ENSP00000502873   ⟸   ENST00000677164
RefSeq Acc Id: ENSP00000503954   ⟸   ENST00000678422
RefSeq Acc Id: XP_047290090   ⟸   XM_047434134
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047290105   ⟸   XM_047434149
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047290097   ⟸   XM_047434141
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047290104   ⟸   XM_047434148
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047290110   ⟸   XM_047434154
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047290094   ⟸   XM_047434138
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047290103   ⟸   XM_047434147
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047290109   ⟸   XM_047434153
- Peptide Label: isoform X22
- UniProtKB: A0A7I2V2E0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047290102   ⟸   XM_047434146
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047290096   ⟸   XM_047434140
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047290108   ⟸   XM_047434152
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047290101   ⟸   XM_047434145
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047290107   ⟸   XM_047434151
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047290087   ⟸   XM_047434131
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047290092   ⟸   XM_047434136
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047290100   ⟸   XM_047434144
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047290091   ⟸   XM_047434135
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047290098   ⟸   XM_047434142
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047290088   ⟸   XM_047434132
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047290089   ⟸   XM_047434133
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290093   ⟸   XM_047434137
- Peptide Label: isoform X9
RefSeq Acc Id: NP_063915   ⟸   NM_019862
- Peptide Label: isoform 2
- UniProtKB: Q9UQ98 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054236327   ⟸   XM_054380352
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054236344   ⟸   XM_054380369
- Peptide Label: isoform X35
RefSeq Acc Id: XP_054236352   ⟸   XM_054380377
- Peptide Label: isoform X38
RefSeq Acc Id: XP_054236351   ⟸   XM_054380376
- Peptide Label: isoform X37
RefSeq Acc Id: XP_054236342   ⟸   XM_054380367
- Peptide Label: isoform X33
RefSeq Acc Id: XP_054236345   ⟸   XM_054380370
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054236334   ⟸   XM_054380359
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054236341   ⟸   XM_054380366
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054236350   ⟸   XM_054380375
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054236332   ⟸   XM_054380357
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054236340   ⟸   XM_054380365
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054236349   ⟸   XM_054380374
- Peptide Label: isoform X22
- UniProtKB: A0A7I2V2E0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054236338   ⟸   XM_054380363
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054236333   ⟸   XM_054380358
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054236339   ⟸   XM_054380364
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054236348   ⟸   XM_054380373
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054236337   ⟸   XM_054380362
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054236347   ⟸   XM_054380372
- Peptide Label: isoform X36
RefSeq Acc Id: XP_054236354   ⟸   XM_054380379
- Peptide Label: isoform X40
RefSeq Acc Id: XP_054236346   ⟸   XM_054380371
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054236353   ⟸   XM_054380378
- Peptide Label: isoform X39
RefSeq Acc Id: XP_054236323   ⟸   XM_054380348
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236329   ⟸   XM_054380354
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054236336   ⟸   XM_054380361
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054236328   ⟸   XM_054380353
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054236335   ⟸   XM_054380360
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054236343   ⟸   XM_054380368
- Peptide Label: isoform X34
RefSeq Acc Id: XP_054236325   ⟸   XM_054380350
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236326   ⟸   XM_054380351
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236331   ⟸   XM_054380356
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054236324   ⟸   XM_054380349
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236330   ⟸   XM_054380355
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054236355   ⟸   XM_054380380
- Peptide Label: isoform X41
Protein Domains
ABC transmembrane type-1   ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P33527-F1-model_v2 AlphaFold P33527 1-1531 view protein structure

Promoters
RGD ID:7231425
Promoter ID:EPDNEW_H21458
Type:initiation region
Name:ABCC1_1
Description:ATP binding cassette subfamily C member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,949,619 - 15,949,679EPDNEW
RGD ID:6793005
Promoter ID:HG_KWN:23130
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000345148,   ENST00000346370,   ENST00000349029,   ENST00000349532,   ENST00000351154,   ENST00000353257,   ENST00000399408,   ENST00000399410
Position:
Human AssemblyChrPosition (strand)Source
Build 361615,950,316 - 15,951,287 (+)MPROMDB
RGD ID:6810878
Promoter ID:HG_ACW:29432
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ABCC1.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361616,077,116 - 16,077,616 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:51 AgrOrtholog
COSMIC ABCC1 COSMIC
Ensembl Genes ENSG00000103222 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278183 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399408 UniProtKB/TrEMBL
  ENST00000399408.7 UniProtKB/Swiss-Prot
  ENST00000399410 ENTREZGENE
  ENST00000399410.8 UniProtKB/Swiss-Prot
  ENST00000572882 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000572882.3 UniProtKB/Swiss-Prot
  ENST00000621144.4 UniProtKB/Swiss-Prot
  ENST00000621659.2 UniProtKB/TrEMBL
  ENST00000622828.3 UniProtKB/TrEMBL
  ENST00000677164 ENTREZGENE
  ENST00000677164.1 UniProtKB/TrEMBL
  ENST00000678422.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103222 GTEx
  ENSG00000278183 GTEx
HGNC ID HGNC:51 ENTREZGENE
Human Proteome Map ABCC1 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Multidrug-R_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4363 UniProtKB/Swiss-Prot
NCBI Gene 4363 ENTREZGENE
OMIM 158343 OMIM
PANTHER ATP-BINDING CASSETTE SUB-FAMILY C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ABCC1 RGD, PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MS99_HUMAN UniProtKB/TrEMBL
  A0A7I2V2E0 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V4C6_HUMAN UniProtKB/TrEMBL
  A3RJX2 ENTREZGENE
  C9JPJ4 ENTREZGENE
  G0ZCM3_HUMAN UniProtKB/TrEMBL
  G0ZCM4_HUMAN UniProtKB/TrEMBL
  G0ZCM5_HUMAN UniProtKB/TrEMBL
  G0ZCM6_HUMAN UniProtKB/TrEMBL
  I3L4X2 ENTREZGENE, UniProtKB/TrEMBL
  MRP1_HUMAN UniProtKB/Swiss-Prot
  O14819 ENTREZGENE
  O43333 ENTREZGENE
  P33527 ENTREZGENE
  P78419 ENTREZGENE
  Q59GI9 ENTREZGENE
  Q9UQ97 ENTREZGENE
  Q9UQ98 ENTREZGENE, UniProtKB/TrEMBL
  Q9UQ99 ENTREZGENE
  Q9UQA0 ENTREZGENE
UniProt Secondary A3RJX2 UniProtKB/Swiss-Prot
  C9JPJ4 UniProtKB/Swiss-Prot
  O14819 UniProtKB/Swiss-Prot
  O43333 UniProtKB/Swiss-Prot
  P78419 UniProtKB/Swiss-Prot
  Q59GI9 UniProtKB/Swiss-Prot
  Q9UQ97 UniProtKB/Swiss-Prot
  Q9UQ99 UniProtKB/Swiss-Prot
  Q9UQA0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-12-18 ABCC1  ATP binding cassette subfamily C member 1 (ABCC1 blood group)  ABCC1  ATP binding cassette subfamily C member 1  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 ABCC1  ATP binding cassette subfamily C member 1    ATP-binding cassette, sub-family C (CFTR/MRP), member 1  Symbol and/or name change 5135510 APPROVED