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rs80359431

From SNPedia

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


Make rs80359431(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338492
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359431
ebirs80359431
HLIrs80359431
Exacrs80359431
Varsomers80359431
Maprs80359431
PheGenIrs80359431
hapmaprs80359431
1000 genomesrs80359431
hgdprs80359431
ensemblrs80359431
gopubmedrs80359431
geneviewrs80359431
scholarrs80359431
googlers80359431
pharmgkbrs80359431
gwascentralrs80359431
openSNPrs80359431
23andMers80359431
23andMe allrs80359431
SNP Nexus

SNPshotrs80359431
SNPdbers80359431
MSV3drs80359431
GWAS Ctlgrs80359431
Max Magnitude6
rs80359431, also known as 4365del5, c.4137_4141delGATTA and p.Gln1379_Lys1381?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359431(;)
Alt rs80359431(;)
Reference rs80359431(AGATT;AGATT)
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.32912629_32912633delGATTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044358.2, RCV000113278.2,