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rs80356832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar
Make rs80356832(C;C)
Make rs80356832(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092963
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356832
ebirs80356832
HLIrs80356832
Exacrs80356832
Varsomers80356832
Maprs80356832
PheGenIrs80356832
hapmaprs80356832
1000 genomesrs80356832
hgdprs80356832
ensemblrs80356832
gopubmedrs80356832
geneviewrs80356832
scholarrs80356832
googlers80356832
pharmgkbrs80356832
gwascentralrs80356832
openSNPrs80356832
23andMers80356832
23andMe allrs80356832
SNP Nexus

SNPshotrs80356832
SNPdbers80356832
MSV3drs80356832
GWAS Ctlgrs80356832
Max Magnitude6
rs80356832, also known as Y856X, c.2568T>G and p,Tyr856Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356832(C,G;C,G)
Alt rs80356832(C,G;C,G)
Reference rs80356832(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244980A>C; NC_000017.10:g.41244980A>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047884.2, RCV000111893.1, RCV000047883.2, RCV000111892.1,