Have questions? Visit https://www.reddit.com/r/SNPedia

rs62625307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 BRCA1 pathogenic mutation associated with breast cancer
(G;G) 0
Make rs62625307(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091933
GeneBRCA1
is asnp
is mentioned by
dbSNPrs62625307
ebirs62625307
HLIrs62625307
Exacrs62625307
Varsomers62625307
Maprs62625307
PheGenIrs62625307
hapmaprs62625307
1000 genomesrs62625307
hgdprs62625307
ensemblrs62625307
gopubmedrs62625307
geneviewrs62625307
scholarrs62625307
googlers62625307
pharmgkbrs62625307
gwascentralrs62625307
openSNPrs62625307
23andMers62625307
23andMe allrs62625307
SNP Nexus

SNPshotrs62625307
SNPdbers62625307
MSV3drs62625307
GWAS Ctlgrs62625307
Max Magnitude7

rs62625307, also known as Q1200X, c.3598C>T, and p.Gln1200Ter, is a SNP in the BRCA1 gene. The rare variant allele is considered pathogenic for breast cancer according to multiple sources in ClinVar.


ClinVar
Risk rs62625307(T;T)
Alt rs62625307(T;T)
Reference rs62625307(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41243950G>A
CLNSRC Inc.
CLNACC RCV000048245.4, RCV000077552.6, RCV000131819.3, RCV000159977.2,