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rs80356925

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356925(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092928
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356925
ebirs80356925
HLIrs80356925
Exacrs80356925
Varsomers80356925
Maprs80356925
PheGenIrs80356925
hapmaprs80356925
1000 genomesrs80356925
hgdprs80356925
ensemblrs80356925
gopubmedrs80356925
geneviewrs80356925
scholarrs80356925
googlers80356925
pharmgkbrs80356925
gwascentralrs80356925
openSNPrs80356925
23andMers80356925
23andMe allrs80356925
SNP Nexus

SNPshotrs80356925
SNPdbers80356925
MSV3drs80356925
GWAS Ctlgrs80356925
Max Magnitude6
rs80356925, also known as S868X, c.2603C>G and p.Ser868Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356925(A,G;A,G)
Alt rs80356925(A,G;A,G)
Reference rs80356925(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41244945G>C; NC_000017.10:g.41244945G>T
CLNSRC ClinVar
CLNACC RCV000031058.4, RCV000047897.4, RCV000162858.1, RCV000235126.1, RCV000047896.2,