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rs80356889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356889(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093532
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356889
ebirs80356889
HLIrs80356889
Exacrs80356889
Varsomers80356889
Maprs80356889
PheGenIrs80356889
hapmaprs80356889
1000 genomesrs80356889
hgdprs80356889
ensemblrs80356889
gopubmedrs80356889
geneviewrs80356889
scholarrs80356889
googlers80356889
pharmgkbrs80356889
gwascentralrs80356889
openSNPrs80356889
23andMers80356889
23andMe allrs80356889
SNP Nexus

SNPshotrs80356889
SNPdbers80356889
MSV3drs80356889
GWAS Ctlgrs80356889
Max Magnitude6
rs80356889, also known as Q667X, c.1999C>T and p.Gln667Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356889(T;T)
Alt rs80356889(T;T)
Reference rs80356889(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245549G>A
CLNSRC ClinVar
CLNACC RCV000047674.2, RCV000111748.1, RCV000162848.1, RCV000236983.1,