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rs80359660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359660(-;-)
Make rs80359660(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356548
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359660
ebirs80359660
HLIrs80359660
Exacrs80359660
Varsomers80359660
Maprs80359660
PheGenIrs80359660
hapmaprs80359660
1000 genomesrs80359660
hgdprs80359660
ensemblrs80359660
gopubmedrs80359660
geneviewrs80359660
scholarrs80359660
googlers80359660
pharmgkbrs80359660
gwascentralrs80359660
openSNPrs80359660
23andMers80359660
23andMe allrs80359660
SNP Nexus

SNPshotrs80359660
SNPdbers80359660
MSV3drs80359660
GWAS Ctlgrs80359660
Max Magnitude6
rs80359660, also known as 7784insC, c.7556_7557insC and p.Pro2519?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359660(C;C)
Alt rs80359660(C;C)
Reference rs80359660(;)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32930685dupC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000076999.3, RCV000215159.1,