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rs398122568

From SNPedia

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


Make rs398122568(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32344575
GeneBRCA2
is asnp
is mentioned by
dbSNPrs398122568
dbSNP (classic)rs398122568
ClinGenrs398122568
ebirs398122568
HLIrs398122568
Exacrs398122568
Gnomadrs398122568
Varsomers398122568
LitVarrs398122568
Maprs398122568
PheGenIrs398122568
Biobankrs398122568
1000 genomesrs398122568
hgdprs398122568
ensemblrs398122568
geneviewrs398122568
scholarrs398122568
googlers398122568
pharmgkbrs398122568
gwascentralrs398122568
openSNPrs398122568
23andMers398122568
SNPshotrs398122568
SNPdbers398122568
MSV3drs398122568
GWAS Ctlgrs398122568
Max Magnitude6

aka c.6859_6863delAGAAA (p.Arg2287Leufs)

ClinVar
Risk rs398122568(-;-)
Alt rs398122568(-;-)
Reference Rs398122568(AAAAG;AAAAG)
Significance Pathogenic
Disease Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32918712_32918716delAGAAA
CLNSRC ClinVar
CLNACC RCV000076978.2, RCV000478767.1,