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rs80357597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357597(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094190
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357597
ebirs80357597
HLIrs80357597
Exacrs80357597
Varsomers80357597
Maprs80357597
PheGenIrs80357597
hapmaprs80357597
1000 genomesrs80357597
hgdprs80357597
ensemblrs80357597
gopubmedrs80357597
geneviewrs80357597
scholarrs80357597
googlers80357597
pharmgkbrs80357597
gwascentralrs80357597
openSNPrs80357597
23andMers80357597
23andMe allrs80357597
SNP Nexus

SNPshotrs80357597
SNPdbers80357597
MSV3drs80357597
GWAS Ctlgrs80357597
Max Magnitude6
rs80357597, also known as 1459insG, c.1340_1341insG and p.Val447?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357597(G;G)
Alt rs80357597(G;G)
Reference rs80357597(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246207_41246208insC
CLNSRC ClinVar
CLNACC RCV000111592.1,