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rs80356932

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356932(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076600
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356932
ebirs80356932
HLIrs80356932
Exacrs80356932
Varsomers80356932
Maprs80356932
PheGenIrs80356932
hapmaprs80356932
1000 genomesrs80356932
hgdprs80356932
ensemblrs80356932
gopubmedrs80356932
geneviewrs80356932
scholarrs80356932
googlers80356932
pharmgkbrs80356932
gwascentralrs80356932
openSNPrs80356932
23andMers80356932
23andMe allrs80356932
SNP Nexus

SNPshotrs80356932
SNPdbers80356932
MSV3drs80356932
GWAS Ctlgrs80356932
Max Magnitude6
rs80356932, also known as Q1458X, c.4372C>T and p.Gln1458Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356932(T;T)
Alt rs80356932(T;T)
Reference rs80356932(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.41228617G>A
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048540.2, RCV000112328.1, RCV000131884.2,