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rs80356999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356999(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093256
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356999
ebirs80356999
HLIrs80356999
Exacrs80356999
Varsomers80356999
Maprs80356999
PheGenIrs80356999
hapmaprs80356999
1000 genomesrs80356999
hgdprs80356999
ensemblrs80356999
gopubmedrs80356999
geneviewrs80356999
scholarrs80356999
googlers80356999
pharmgkbrs80356999
gwascentralrs80356999
openSNPrs80356999
23andMers80356999
23andMe allrs80356999
SNP Nexus

SNPshotrs80356999
SNPdbers80356999
MSV3drs80356999
GWAS Ctlgrs80356999
Max Magnitude6
rs80356999, also known as Q759X, c.2275C>T and p.Gln759Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356999(T;T)
Alt rs80356999(T;T)
Reference rs80356999(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245273G>A
CLNSRC ClinVar
CLNACC RCV000047780.2, RCV000111814.1,