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rs80359738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359738(-;-)
Make rs80359738(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332378
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359738
ebirs80359738
HLIrs80359738
Exacrs80359738
Varsomers80359738
Maprs80359738
PheGenIrs80359738
hapmaprs80359738
1000 genomesrs80359738
hgdprs80359738
ensemblrs80359738
gopubmedrs80359738
geneviewrs80359738
scholarrs80359738
googlers80359738
pharmgkbrs80359738
gwascentralrs80359738
openSNPrs80359738
23andMers80359738
23andMe allrs80359738
SNP Nexus

SNPshotrs80359738
SNPdbers80359738
MSV3drs80359738
GWAS Ctlgrs80359738
Max Magnitude6
rs80359738, also known as 1128insG, c.900_901insG and p.Val300_Asp301?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359738(G;G)
Alt rs80359738(G;G)
Reference rs80359738(;)
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.32906516dupG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045691.2, RCV000112861.1,