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rs80357343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357343(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091567
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357343
ebirs80357343
HLIrs80357343
Exacrs80357343
Varsomers80357343
Maprs80357343
PheGenIrs80357343
hapmaprs80357343
1000 genomesrs80357343
hgdprs80357343
ensemblrs80357343
gopubmedrs80357343
geneviewrs80357343
scholarrs80357343
googlers80357343
pharmgkbrs80357343
gwascentralrs80357343
openSNPrs80357343
23andMers80357343
23andMe allrs80357343
SNP Nexus

SNPshotrs80357343
SNPdbers80357343
MSV3drs80357343
GWAS Ctlgrs80357343
Max Magnitude6
rs80357343, also known as K1322X, c.3964A>T and p.Lys1322Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357343(C,G,T;C,G,T)
Alt rs80357343(C,G,T;C,G,T)
Reference rs80357343(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41243584T>A; NC_000017.10:g.41243584T>C; NC_000017.10:g.41243584T>G
CLNSRC ClinVar
CLNACC RCV000048390.2, RCV000112218.1, RCV000217442.1, RCV000220524.1,