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rs80357716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357716(-;-)
Make rs80357716(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43082475
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357716
ebirs80357716
HLIrs80357716
Exacrs80357716
Varsomers80357716
Maprs80357716
PheGenIrs80357716
hapmaprs80357716
1000 genomesrs80357716
hgdprs80357716
ensemblrs80357716
gopubmedrs80357716
geneviewrs80357716
scholarrs80357716
googlers80357716
pharmgkbrs80357716
gwascentralrs80357716
openSNPrs80357716
23andMers80357716
23andMe allrs80357716
SNP Nexus

SNPshotrs80357716
SNPdbers80357716
MSV3drs80357716
GWAS Ctlgrs80357716
Max Magnitude6
rs80357716, also known as 4404insG, c.4285_4286insG and p.Tyr1429?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357716(G;G)
Alt rs80357716(G;G)
Reference rs80357716(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41234492_41234493insC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112307.1,