Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357118

From SNPedia

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


Make rs80357118(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093738
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357118
ebirs80357118
HLIrs80357118
Exacrs80357118
Varsomers80357118
Maprs80357118
PheGenIrs80357118
hapmaprs80357118
1000 genomesrs80357118
hgdprs80357118
ensemblrs80357118
gopubmedrs80357118
geneviewrs80357118
scholarrs80357118
googlers80357118
pharmgkbrs80357118
gwascentralrs80357118
openSNPrs80357118
23andMers80357118
23andMe allrs80357118
SNP Nexus

SNPshotrs80357118
SNPdbers80357118
MSV3drs80357118
GWAS Ctlgrs80357118
Max Magnitude6
rs80357118, also known as L598X, c.1793T>A and p.Leu598Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357118(A,G;A,G)
Alt rs80357118(A,G;A,G)
Reference rs80357118(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome 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 cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245755A>C; NC_000017.10:g.41245755A>T
CLNSRC ClinVar
CLNACC RCV000047588.2, RCV000111687.1, RCV000162846.1, RCV000047587.3, RCV000111686.1, RCV000219724.1,