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rs80359475

From SNPedia

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


Make rs80359475(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339320
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359475
ebirs80359475
HLIrs80359475
Exacrs80359475
Varsomers80359475
Maprs80359475
PheGenIrs80359475
hapmaprs80359475
1000 genomesrs80359475
hgdprs80359475
ensemblrs80359475
gopubmedrs80359475
geneviewrs80359475
scholarrs80359475
googlers80359475
pharmgkbrs80359475
gwascentralrs80359475
openSNPrs80359475
23andMers80359475
23andMe allrs80359475
SNP Nexus

SNPshotrs80359475
SNPdbers80359475
MSV3drs80359475
GWAS Ctlgrs80359475
Max Magnitude6
rs80359475, also known as 5193delC, c.4965_4965delC and p.Tyr1655Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359475(;)
Alt rs80359475(;)
Reference rs80359475(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913457delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044534.3, RCV000077343.3,