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rs80356904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356904(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093910
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356904
ebirs80356904
HLIrs80356904
Exacrs80356904
Varsomers80356904
Maprs80356904
PheGenIrs80356904
hapmaprs80356904
1000 genomesrs80356904
hgdprs80356904
ensemblrs80356904
gopubmedrs80356904
geneviewrs80356904
scholarrs80356904
googlers80356904
pharmgkbrs80356904
gwascentralrs80356904
openSNPrs80356904
23andMers80356904
23andMe allrs80356904
SNP Nexus

SNPshotrs80356904
SNPdbers80356904
MSV3drs80356904
GWAS Ctlgrs80356904
Max Magnitude6
rs80356904, also known as Q541X, c.1621C>T and p.Gln541Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356904(T;T)
Alt rs80356904(T;T)
Reference rs80356904(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.41245927G>A
CLNSRC ClinVar
CLNACC RCV000047543.2, RCV000077493.4,