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rs80356984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356984(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093955
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356984
ebirs80356984
HLIrs80356984
Exacrs80356984
Varsomers80356984
Maprs80356984
PheGenIrs80356984
hapmaprs80356984
1000 genomesrs80356984
hgdprs80356984
ensemblrs80356984
gopubmedrs80356984
geneviewrs80356984
scholarrs80356984
googlers80356984
pharmgkbrs80356984
gwascentralrs80356984
openSNPrs80356984
23andMers80356984
23andMe allrs80356984
SNP Nexus

SNPshotrs80356984
SNPdbers80356984
MSV3drs80356984
GWAS Ctlgrs80356984
Max Magnitude6
rs80356984, also known as Q526X, c.1576C>T and p.Gln526Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356984(T;T)
Alt rs80356984(T;T)
Reference rs80356984(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.41245972G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047531.2, RCV000111649.1, RCV000131839.2,