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rs80359512

From SNPedia

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


Make rs80359512(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339765
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359512
ebirs80359512
HLIrs80359512
Exacrs80359512
Varsomers80359512
Maprs80359512
PheGenIrs80359512
hapmaprs80359512
1000 genomesrs80359512
hgdprs80359512
ensemblrs80359512
gopubmedrs80359512
geneviewrs80359512
scholarrs80359512
googlers80359512
pharmgkbrs80359512
gwascentralrs80359512
openSNPrs80359512
23andMers80359512
23andMe allrs80359512
SNP Nexus

SNPshotrs80359512
SNPdbers80359512
MSV3drs80359512
GWAS Ctlgrs80359512
Max Magnitude6
rs80359512, also known as 5638delGT, c.5410_5411delGT and p.Val1804Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359512(;)
Alt rs80359512(;)
Reference rs80359512(TG;TG)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32913902_32913903delGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031544.4, RCV000044655.2, RCV000131109.2, RCV000219181.1,