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rs80357972

From SNPedia

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


Make rs80357972(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115742
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357972
ebirs80357972
HLIrs80357972
Exacrs80357972
Varsomers80357972
Maprs80357972
PheGenIrs80357972
hapmaprs80357972
1000 genomesrs80357972
hgdprs80357972
ensemblrs80357972
gopubmedrs80357972
geneviewrs80357972
scholarrs80357972
googlers80357972
pharmgkbrs80357972
gwascentralrs80357972
openSNPrs80357972
23andMers80357972
23andMe allrs80357972
SNP Nexus

SNPshotrs80357972
SNPdbers80357972
MSV3drs80357972
GWAS Ctlgrs80357972
Max Magnitude6
rs80357972, also known as 236delTG, c.117_118delTG and p.Cys39_Asp40TerProfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357972(;)
Alt rs80357972(;)
Reference rs80357972(TG;TG)
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.41267759_41267760delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047373.2, RCV000077484.3, RCV000162845.1,