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rs80357861

From SNPedia

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


Make rs80357861(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091016
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357861
ebirs80357861
HLIrs80357861
Exacrs80357861
Varsomers80357861
Maprs80357861
PheGenIrs80357861
hapmaprs80357861
1000 genomesrs80357861
hgdprs80357861
ensemblrs80357861
gopubmedrs80357861
geneviewrs80357861
scholarrs80357861
googlers80357861
pharmgkbrs80357861
gwascentralrs80357861
openSNPrs80357861
23andMers80357861
23andMe allrs80357861
SNP Nexus

SNPshotrs80357861
SNPdbers80357861
MSV3drs80357861
GWAS Ctlgrs80357861
Max Magnitude6
rs80357861, also known as 4232delG, c.4113_4113delG and p.Gly1371=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357861(;)
Alt rs80357861(;)
Reference rs80357861(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243033delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112262.3,