Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359654

From SNPedia

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


Make rs80359654(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330985
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359654
ebirs80359654
HLIrs80359654
Exacrs80359654
Varsomers80359654
Maprs80359654
PheGenIrs80359654
hapmaprs80359654
1000 genomesrs80359654
hgdprs80359654
ensemblrs80359654
gopubmedrs80359654
geneviewrs80359654
scholarrs80359654
googlers80359654
pharmgkbrs80359654
gwascentralrs80359654
openSNPrs80359654
23andMers80359654
23andMe allrs80359654
SNP Nexus

SNPshotrs80359654
SNPdbers80359654
MSV3drs80359654
GWAS Ctlgrs80359654
Max Magnitude6
rs80359654, also known as 976delG, c.748_748delG and p.Val250Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359654(;)
Alt rs80359654(;)
Reference rs80359654(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.32905122delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045230.2, RCV000114130.1,