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rs80359646

From SNPedia

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


Make rs80359646(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355213
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359646
ebirs80359646
HLIrs80359646
Exacrs80359646
Varsomers80359646
Maprs80359646
PheGenIrs80359646
hapmaprs80359646
1000 genomesrs80359646
hgdprs80359646
ensemblrs80359646
gopubmedrs80359646
geneviewrs80359646
scholarrs80359646
googlers80359646
pharmgkbrs80359646
gwascentralrs80359646
openSNPrs80359646
23andMers80359646
23andMe allrs80359646
SNP Nexus

SNPshotrs80359646
SNPdbers80359646
MSV3drs80359646
GWAS Ctlgrs80359646
Max Magnitude6
rs80359646, also known as 7588delA, c.7360_7360delA and p.Ile2454Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359646(;)
Alt rs80359646(;)
Reference rs80359646(A;A)
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.32929350delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045191.2, RCV000113747.2,