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rs80359416

From SNPedia

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


Make rs80359416(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338274
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359416
ebirs80359416
HLIrs80359416
Exacrs80359416
Varsomers80359416
Maprs80359416
PheGenIrs80359416
hapmaprs80359416
1000 genomesrs80359416
hgdprs80359416
ensemblrs80359416
gopubmedrs80359416
geneviewrs80359416
scholarrs80359416
googlers80359416
pharmgkbrs80359416
gwascentralrs80359416
openSNPrs80359416
23andMers80359416
23andMe allrs80359416
SNP Nexus

SNPshotrs80359416
SNPdbers80359416
MSV3drs80359416
GWAS Ctlgrs80359416
Max Magnitude6
rs80359416, also known as 4147delG, c.3919_3919delG and p.Glu1307Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359416(;)
Alt rs80359416(;)
Reference rs80359416(G;G)
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.32912411delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044311.2, RCV000113243.1,