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rs80357637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 Normal


Make rs80357637(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106525
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357637
ebirs80357637
HLIrs80357637
Exacrs80357637
Varsomers80357637
Maprs80357637
PheGenIrs80357637
hapmaprs80357637
1000 genomesrs80357637
hgdprs80357637
ensemblrs80357637
gopubmedrs80357637
geneviewrs80357637
scholarrs80357637
googlers80357637
pharmgkbrs80357637
gwascentralrs80357637
openSNPrs80357637
23andMers80357637
23andMe allrs80357637
SNP Nexus

SNPshotrs80357637
SNPdbers80357637
MSV3drs80357637
GWAS Ctlgrs80357637
Max Magnitude6
rs80357637, also known as 262delT, c.143_143delT and p.Met48Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357637(;)
Alt rs80357637(;)
Reference rs80357637(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41258542delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030993.5, RCV000047475.3, RCV000129404.2,