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rs80357799

From SNPedia

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


Make rs80357799(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093063
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357799
ebirs80357799
HLIrs80357799
Exacrs80357799
Varsomers80357799
Maprs80357799
PheGenIrs80357799
hapmaprs80357799
1000 genomesrs80357799
hgdprs80357799
ensemblrs80357799
gopubmedrs80357799
geneviewrs80357799
scholarrs80357799
googlers80357799
pharmgkbrs80357799
gwascentralrs80357799
openSNPrs80357799
23andMers80357799
23andMe allrs80357799
SNP Nexus

SNPshotrs80357799
SNPdbers80357799
MSV3drs80357799
GWAS Ctlgrs80357799
Max Magnitude6
rs80357799, also known as 2587delG, c.2468_2468delG and p.Arg823Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357799(;)
Alt rs80357799(;)
Reference rs80357799(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.41245080delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047847.2, RCV000111867.1,