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rs80359587

From SNPedia

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


Make rs80359587(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340786
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359587
ebirs80359587
HLIrs80359587
Exacrs80359587
Varsomers80359587
Maprs80359587
PheGenIrs80359587
hapmaprs80359587
1000 genomesrs80359587
hgdprs80359587
ensemblrs80359587
gopubmedrs80359587
geneviewrs80359587
scholarrs80359587
googlers80359587
pharmgkbrs80359587
gwascentralrs80359587
openSNPrs80359587
23andMers80359587
23andMe allrs80359587
SNP Nexus

SNPshotrs80359587
SNPdbers80359587
MSV3drs80359587
GWAS Ctlgrs80359587
Max Magnitude6
rs80359587, also known as 6659delA, c.6431_6431delA and p.Glu2144=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359587(;)
Alt rs80359587(;)
Reference rs80359587(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.32914923delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044944.2, RCV000113587.1,