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rs80359469

From SNPedia

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


Make rs80359469(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339200
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359469
ebirs80359469
HLIrs80359469
Exacrs80359469
Varsomers80359469
Maprs80359469
PheGenIrs80359469
hapmaprs80359469
1000 genomesrs80359469
hgdprs80359469
ensemblrs80359469
gopubmedrs80359469
geneviewrs80359469
scholarrs80359469
googlers80359469
pharmgkbrs80359469
gwascentralrs80359469
openSNPrs80359469
23andMers80359469
23andMe allrs80359469
SNP Nexus

SNPshotrs80359469
SNPdbers80359469
MSV3drs80359469
GWAS Ctlgrs80359469
Max Magnitude6
rs80359469, also known as 5073delCT, c.4845_4846delCT and p.Leu1615_Leu1616LeuLysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359469(;)
Alt rs80359469(;)
Reference rs80359469(CT;CT)
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.32913337_32913338delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044504.2, RCV000113350.1,