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rs80356982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356982(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093121
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356982
ebirs80356982
HLIrs80356982
Exacrs80356982
Varsomers80356982
Maprs80356982
PheGenIrs80356982
hapmaprs80356982
1000 genomesrs80356982
hgdprs80356982
ensemblrs80356982
gopubmedrs80356982
geneviewrs80356982
scholarrs80356982
googlers80356982
pharmgkbrs80356982
gwascentralrs80356982
openSNPrs80356982
23andMers80356982
23andMe allrs80356982
SNP Nexus

SNPshotrs80356982
SNPdbers80356982
MSV3drs80356982
GWAS Ctlgrs80356982
Max Magnitude6
rs80356982, also known as Q804X, c.2410C>T and p.Gln804Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356982(G,T;G,T)
Alt rs80356982(G,T;G,T)
Reference rs80356982(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245138G>A; NC_000017.10:g.41245138G>C
CLNSRC ClinVar
CLNACC RCV000047828.2, RCV000077516.3, RCV000166373.1,