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rs80357229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357229(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074397
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357229
ebirs80357229
HLIrs80357229
Exacrs80357229
Varsomers80357229
Maprs80357229
PheGenIrs80357229
hapmaprs80357229
1000 genomesrs80357229
hgdprs80357229
ensemblrs80357229
gopubmedrs80357229
geneviewrs80357229
scholarrs80357229
googlers80357229
pharmgkbrs80357229
gwascentralrs80357229
openSNPrs80357229
23andMers80357229
23andMe allrs80357229
SNP Nexus

SNPshotrs80357229
SNPdbers80357229
MSV3drs80357229
GWAS Ctlgrs80357229
Max Magnitude6
rs80357229, also known as Q1537X, c.4609C>T and p.Gln1537Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357229(T;T)
Alt rs80357229(T;T)
Reference rs80357229(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41226414G>A
CLNSRC ClinVar
CLNACC RCV000048604.2, RCV000112363.1,