Have questions? Visit https://www.reddit.com/r/SNPedia

rs397507829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507829(-;-)
Make rs397507829(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340451
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507829
ebirs397507829
HLIrs397507829
Exacrs397507829
Varsomers397507829
Maprs397507829
PheGenIrs397507829
hapmaprs397507829
1000 genomesrs397507829
hgdprs397507829
ensemblrs397507829
gopubmedrs397507829
geneviewrs397507829
scholarrs397507829
googlers397507829
pharmgkbrs397507829
gwascentralrs397507829
openSNPrs397507829
23andMers397507829
23andMe allrs397507829
SNP Nexus

SNPshotrs397507829
SNPdbers397507829
MSV3drs397507829
GWAS Ctlgrs397507829
Max Magnitude6
rs397507829, also known as 6325insT, c.6096_6097insT and p.Ile2033TyrfsX16, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs397507829(T;T)
Alt rs397507829(T;T)
Reference rs397507829(;)
Significance Pathogenic
Disease Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32914588dupT
CLNSRC ClinVar
CLNACC RCV000044842.2, RCV000216541.1,