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rs80357433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357433(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071225
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357433
ebirs80357433
HLIrs80357433
Exacrs80357433
Varsomers80357433
Maprs80357433
PheGenIrs80357433
hapmaprs80357433
1000 genomesrs80357433
hgdprs80357433
ensemblrs80357433
gopubmedrs80357433
geneviewrs80357433
scholarrs80357433
googlers80357433
pharmgkbrs80357433
gwascentralrs80357433
openSNPrs80357433
23andMers80357433
23andMe allrs80357433
SNP Nexus

SNPshotrs80357433
SNPdbers80357433
MSV3drs80357433
GWAS Ctlgrs80357433
Max Magnitude6
rs80357433, also known as Y1563X, c.4689C>G and p.Tyr1563Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357433(G;G)
Alt rs80357433(G;G)
Reference rs80357433(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41223242G>C
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031188.8, RCV000048631.5, RCV000131835.2, RCV000159994.2,