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rs80359506

From SNPedia

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


Make rs80359506(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339699
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359506
ebirs80359506
HLIrs80359506
Exacrs80359506
Varsomers80359506
Maprs80359506
PheGenIrs80359506
hapmaprs80359506
1000 genomesrs80359506
hgdprs80359506
ensemblrs80359506
gopubmedrs80359506
geneviewrs80359506
scholarrs80359506
googlers80359506
pharmgkbrs80359506
gwascentralrs80359506
openSNPrs80359506
23andMers80359506
23andMe allrs80359506
SNP Nexus

SNPshotrs80359506
SNPdbers80359506
MSV3drs80359506
GWAS Ctlgrs80359506
Max Magnitude6
rs80359506, also known as 5572delCA, c.5344_5345delCA and p.Gln1782Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359506(;)
Alt rs80359506(;)
Reference rs80359506(CA;CA)
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.32913836_32913837delCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044638.2, RCV000113423.1,