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rs80356881

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356881(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074454
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356881
ebirs80356881
HLIrs80356881
Exacrs80356881
Varsomers80356881
Maprs80356881
PheGenIrs80356881
hapmaprs80356881
1000 genomesrs80356881
hgdprs80356881
ensemblrs80356881
gopubmedrs80356881
geneviewrs80356881
scholarrs80356881
googlers80356881
pharmgkbrs80356881
gwascentralrs80356881
openSNPrs80356881
23andMers80356881
23andMe allrs80356881
SNP Nexus

SNPshotrs80356881
SNPdbers80356881
MSV3drs80356881
GWAS Ctlgrs80356881
Max Magnitude6
rs80356881, also known as Q1518X, c.4552C>T and p.Gln1518Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356881(T;T)
Alt rs80356881(T;T)
Reference rs80356881(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41226471G>A; NC_000017.10:g.41226471G>C; NC_000017.10:g.41226471G>T
CLNSRC ClinVar
CLNACC RCV000048592.2, RCV000112357.1, RCV000204694.1, RCV000210208.1, RCV000223155.1, RCV000227811.1,