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rs80357352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357352(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071104
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357352
ebirs80357352
HLIrs80357352
Exacrs80357352
Varsomers80357352
Maprs80357352
PheGenIrs80357352
hapmaprs80357352
1000 genomesrs80357352
hgdprs80357352
ensemblrs80357352
gopubmedrs80357352
geneviewrs80357352
scholarrs80357352
googlers80357352
pharmgkbrs80357352
gwascentralrs80357352
openSNPrs80357352
23andMers80357352
23andMe allrs80357352
SNP Nexus

SNPshotrs80357352
SNPdbers80357352
MSV3drs80357352
GWAS Ctlgrs80357352
Max Magnitude6
rs80357352, also known as Q1604X, c.4810C>T and p.Gln1604Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357352(T;T)
Alt rs80357352(T;T)
Reference rs80357352(C;C)
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.41223121G>A
CLNSRC ClinVar
CLNACC RCV000048663.2, RCV000112402.1, RCV000215003.1,