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rs80357305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357305(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082503
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357305
ebirs80357305
HLIrs80357305
Exacrs80357305
Varsomers80357305
Maprs80357305
PheGenIrs80357305
hapmaprs80357305
1000 genomesrs80357305
hgdprs80357305
ensemblrs80357305
gopubmedrs80357305
geneviewrs80357305
scholarrs80357305
googlers80357305
pharmgkbrs80357305
gwascentralrs80357305
openSNPrs80357305
23andMers80357305
23andMe allrs80357305
SNP Nexus

SNPshotrs80357305
SNPdbers80357305
MSV3drs80357305
GWAS Ctlgrs80357305
Max Magnitude6
rs80357305, also known as Q1420X, c.4258C>T and p.Gln1420Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357305(T;T)
Alt rs80357305(T;T)
Reference rs80357305(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41234520G>A; NC_000017.10:g.41234520G>C
CLNSRC ClinVar
CLNACC RCV000048504.2, RCV000077569.5, RCV000236776.1, RCV000218736.1,