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rs80359440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359440(-;-)
Make rs80359440(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338639
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359440
ebirs80359440
HLIrs80359440
Exacrs80359440
Varsomers80359440
Maprs80359440
PheGenIrs80359440
hapmaprs80359440
1000 genomesrs80359440
hgdprs80359440
ensemblrs80359440
gopubmedrs80359440
geneviewrs80359440
scholarrs80359440
googlers80359440
pharmgkbrs80359440
gwascentralrs80359440
openSNPrs80359440
23andMers80359440
23andMe allrs80359440
SNP Nexus

SNPshotrs80359440
SNPdbers80359440
MSV3drs80359440
GWAS Ctlgrs80359440
Max Magnitude6
rs80359440, also known as 4512insT, c.4284_4285insT and p.Phe1428_Gln1429?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359440(T;T)
Alt rs80359440(T;T)
Reference rs80359440(;)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32912776dupT
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031473.8, RCV000044387.5, RCV000130074.3, RCV000160287.2,