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rs80357936

From SNPedia

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


Make rs80357936(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093328
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357936
ebirs80357936
HLIrs80357936
Exacrs80357936
Varsomers80357936
Maprs80357936
PheGenIrs80357936
hapmaprs80357936
1000 genomesrs80357936
hgdprs80357936
ensemblrs80357936
gopubmedrs80357936
geneviewrs80357936
scholarrs80357936
googlers80357936
pharmgkbrs80357936
gwascentralrs80357936
openSNPrs80357936
23andMers80357936
23andMe allrs80357936
SNP Nexus

SNPshotrs80357936
SNPdbers80357936
MSV3drs80357936
GWAS Ctlgrs80357936
Max Magnitude6
rs80357936, also known as 2322delC, c.2203_2203delC and p.Leu735Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357936(;)
Alt rs80357936(;)
Reference rs80357936(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245345delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047756.2, RCV000111792.1,