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rs80359350

From SNPedia

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


Make rs80359350(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337160
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359350
ebirs80359350
HLIrs80359350
Exacrs80359350
Varsomers80359350
Maprs80359350
PheGenIrs80359350
hapmaprs80359350
1000 genomesrs80359350
hgdprs80359350
ensemblrs80359350
gopubmedrs80359350
geneviewrs80359350
scholarrs80359350
googlers80359350
pharmgkbrs80359350
gwascentralrs80359350
openSNPrs80359350
23andMers80359350
23andMe allrs80359350
SNP Nexus

SNPshotrs80359350
SNPdbers80359350
MSV3drs80359350
GWAS Ctlgrs80359350
Max Magnitude6
rs80359350, also known as 3033del4, c.2805_2808delTAAA and p.Asp935_Lys936?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359350(;)
Alt rs80359350(;)
Reference rs80359350(ATAA;ATAA)
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.32911297_32911300delTAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044063.2, RCV000113095.1,