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rs80357938

From SNPedia

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


Make rs80357938(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067677
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357938
ebirs80357938
HLIrs80357938
Exacrs80357938
Varsomers80357938
Maprs80357938
PheGenIrs80357938
hapmaprs80357938
1000 genomesrs80357938
hgdprs80357938
ensemblrs80357938
gopubmedrs80357938
geneviewrs80357938
scholarrs80357938
googlers80357938
pharmgkbrs80357938
gwascentralrs80357938
openSNPrs80357938
23andMers80357938
23andMe allrs80357938
SNP Nexus

SNPshotrs80357938
SNPdbers80357938
MSV3drs80357938
GWAS Ctlgrs80357938
Max Magnitude6
rs80357938, also known as 5124delG, c.5005_5005delG and p.Ala1669Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357938(;)
Alt rs80357938(;)
Reference rs80357938(G;G)
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.41219694delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048737.2, RCV000112462.1,