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rs80357850

From SNPedia

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


Make rs80357850(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093138
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357850
ebirs80357850
HLIrs80357850
Exacrs80357850
Varsomers80357850
Maprs80357850
PheGenIrs80357850
hapmaprs80357850
1000 genomesrs80357850
hgdprs80357850
ensemblrs80357850
gopubmedrs80357850
geneviewrs80357850
scholarrs80357850
googlers80357850
pharmgkbrs80357850
gwascentralrs80357850
openSNPrs80357850
23andMers80357850
23andMe allrs80357850
SNP Nexus

SNPshotrs80357850
SNPdbers80357850
MSV3drs80357850
GWAS Ctlgrs80357850
Max Magnitude6
rs80357850, also known as 2512delC, c.2393_2393delC and p.Pro798Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357850(;)
Alt rs80357850(;)
Reference rs80357850(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.41245155delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047823.2, RCV000111841.1,