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rs397507658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs397507658(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337557
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507658
ebirs397507658
HLIrs397507658
Exacrs397507658
Varsomers397507658
Maprs397507658
PheGenIrs397507658
hapmaprs397507658
1000 genomesrs397507658
hgdprs397507658
ensemblrs397507658
gopubmedrs397507658
geneviewrs397507658
scholarrs397507658
googlers397507658
pharmgkbrs397507658
gwascentralrs397507658
openSNPrs397507658
23andMers397507658
23andMe allrs397507658
SNP Nexus

SNPshotrs397507658
SNPdbers397507658
MSV3drs397507658
GWAS Ctlgrs397507658
Max Magnitude6
rs397507658, also known as 3430delG, c.3202delG and p.Val1068TyrfsX9, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs397507658(;)
Alt rs397507658(;)
Reference rs397507658(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911694delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044146.2, RCV000113146.1,