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rs80357461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357461(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091627
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357461
ebirs80357461
HLIrs80357461
Exacrs80357461
Varsomers80357461
Maprs80357461
PheGenIrs80357461
hapmaprs80357461
1000 genomesrs80357461
hgdprs80357461
ensemblrs80357461
gopubmedrs80357461
geneviewrs80357461
scholarrs80357461
googlers80357461
pharmgkbrs80357461
gwascentralrs80357461
openSNPrs80357461
23andMers80357461
23andMe allrs80357461
SNP Nexus

SNPshotrs80357461
SNPdbers80357461
MSV3drs80357461
GWAS Ctlgrs80357461
Max Magnitude6
rs80357461, also known as E1302X, c.3904G>T and p.Glu1302Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357461(A,T;A,T)
Alt rs80357461(A,T;A,T)
Reference rs80357461(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41243644C>A; NC_000017.10:g.41243644C>T
CLNSRC ClinVar
CLNACC RCV000048375.2, RCV000083199.3, RCV000213550.1,