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rs80357063

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer


Make rs80357063(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093222
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357063
ebirs80357063
HLIrs80357063
Exacrs80357063
Varsomers80357063
Maprs80357063
PheGenIrs80357063
hapmaprs80357063
1000 genomesrs80357063
hgdprs80357063
ensemblrs80357063
gopubmedrs80357063
geneviewrs80357063
scholarrs80357063
googlers80357063
pharmgkbrs80357063
gwascentralrs80357063
openSNPrs80357063
23andMers80357063
23andMe allrs80357063
SNP Nexus

SNPshotrs80357063
SNPdbers80357063
MSV3drs80357063
GWAS Ctlgrs80357063
Max Magnitude6
rs80357063, also known as S770X, c.2309C>T and p.Ser770Leu, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357063(A,T;A,T)
Alt rs80357063(A,T;A,T)
Reference rs80357063(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245239G>A; NC_000017.10:g.41245239G>T
CLNSRC ClinVar
CLNACC RCV000111821.1, RCV000047791.5, RCV000077513.3, RCV000222520.1,