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rs80356888

From SNPedia

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


Make rs80356888(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104173
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356888
ebirs80356888
HLIrs80356888
Exacrs80356888
Varsomers80356888
Maprs80356888
PheGenIrs80356888
hapmaprs80356888
1000 genomesrs80356888
hgdprs80356888
ensemblrs80356888
gopubmedrs80356888
geneviewrs80356888
scholarrs80356888
googlers80356888
pharmgkbrs80356888
gwascentralrs80356888
openSNPrs80356888
23andMers80356888
23andMe allrs80356888
SNP Nexus

SNPshotrs80356888
SNPdbers80356888
MSV3drs80356888
GWAS Ctlgrs80356888
GMAF0.0004591
Max Magnitude6
rs80356888, also known as Y130X, c.390C>A and p.Tyr130Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356888(A,T;A,T)
Alt rs80356888(A,T;A,T)
Reference rs80356888(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41256190G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048376.3, RCV000112439.1, RCV000131881.2, RCV000159938.1,