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rs273899698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273899698(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092434
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899698
ebirs273899698
HLIrs273899698
Exacrs273899698
Varsomers273899698
Maprs273899698
PheGenIrs273899698
hapmaprs273899698
1000 genomesrs273899698
hgdprs273899698
ensemblrs273899698
gopubmedrs273899698
geneviewrs273899698
scholarrs273899698
googlers273899698
pharmgkbrs273899698
gwascentralrs273899698
openSNPrs273899698
23andMers273899698
23andMe allrs273899698
SNP Nexus

SNPshotrs273899698
SNPdbers273899698
MSV3drs273899698
GWAS Ctlgrs273899698
Max Magnitude6
rs273899698, also known as E1033X, c.3097G>T and p.Glu1033Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899698(A,T;A,T)
Alt rs273899698(A,T;A,T)
Reference rs273899698(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations not specified
Reversed 1
HGVS NC_000017.10:g.41244451C>A; NC_000017.10:g.41244451C>T
CLNSRC ClinVar
CLNACC RCV000048069.2, RCV000077538.3, RCV000216019.1, RCV000159975.1,