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rs80356872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80356872(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092610
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356872
ebirs80356872
HLIrs80356872
Exacrs80356872
Varsomers80356872
Maprs80356872
PheGenIrs80356872
hapmaprs80356872
1000 genomesrs80356872
hgdprs80356872
ensemblrs80356872
gopubmedrs80356872
geneviewrs80356872
scholarrs80356872
googlers80356872
pharmgkbrs80356872
gwascentralrs80356872
openSNPrs80356872
23andMers80356872
23andMe allrs80356872
SNP Nexus

SNPshotrs80356872
SNPdbers80356872
MSV3drs80356872
GWAS Ctlgrs80356872
Max Magnitude6
rs80356872, also known as L974X, c.2921T>A and p.Leu974Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356872(A,C;A,C)
Alt rs80356872(A,C;A,C)
Reference rs80356872(T;T)
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.41244627A>G; NC_000017.10:g.41244627A>T
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000048011.2, RCV000111966.1, RCV000048010.2, RCV000111965.1, RCV000131911.2,