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rs80359353

From SNPedia

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


Make rs80359353(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337165
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359353
ebirs80359353
HLIrs80359353
Exacrs80359353
Varsomers80359353
Maprs80359353
PheGenIrs80359353
hapmaprs80359353
1000 genomesrs80359353
hgdprs80359353
ensemblrs80359353
gopubmedrs80359353
geneviewrs80359353
scholarrs80359353
googlers80359353
pharmgkbrs80359353
gwascentralrs80359353
openSNPrs80359353
23andMers80359353
23andMe allrs80359353
SNP Nexus

SNPshotrs80359353
SNPdbers80359353
MSV3drs80359353
GWAS Ctlgrs80359353
Max Magnitude6
rs80359353, also known as 3038delAA, c.2810_2811delAA and p.Gln937Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359353(;)
Alt rs80359353(;)
Reference rs80359353(AA;AA)
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.32911302_32911303delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044065.2, RCV000113097.1,