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rs80359378

From SNPedia

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


Make rs80359378(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337583
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359378
ebirs80359378
HLIrs80359378
Exacrs80359378
Varsomers80359378
Maprs80359378
PheGenIrs80359378
hapmaprs80359378
1000 genomesrs80359378
hgdprs80359378
ensemblrs80359378
gopubmedrs80359378
geneviewrs80359378
scholarrs80359378
googlers80359378
pharmgkbrs80359378
gwascentralrs80359378
openSNPrs80359378
23andMers80359378
23andMe allrs80359378
SNP Nexus

SNPshotrs80359378
SNPdbers80359378
MSV3drs80359378
GWAS Ctlgrs80359378
Max Magnitude6
rs80359378, also known as 3456delAG, c.3228_3229delAG and p.Val1076_Val1077ValCysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359378(;)
Alt rs80359378(;)
Reference rs80359378(AG;AG)
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.32911720_32911721delAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044152.2, RCV000113149.1,