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rs80357233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357233(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093393
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357233
ebirs80357233
HLIrs80357233
Exacrs80357233
Varsomers80357233
Maprs80357233
PheGenIrs80357233
hapmaprs80357233
1000 genomesrs80357233
hgdprs80357233
ensemblrs80357233
gopubmedrs80357233
geneviewrs80357233
scholarrs80357233
googlers80357233
pharmgkbrs80357233
gwascentralrs80357233
openSNPrs80357233
23andMers80357233
23andMe allrs80357233
SNP Nexus

SNPshotrs80357233
SNPdbers80357233
MSV3drs80357233
GWAS Ctlgrs80357233
Max Magnitude6
rs80357233, also known as S713X, c.2138C>G and p.Ser713Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357233(G;G)
Alt rs80357233(G;G)
Reference rs80357233(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245410G>C
CLNSRC ClinVar
CLNACC RCV000031032.5, RCV000047730.3, RCV000074571.6, RCV000162851.1,