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rs80359282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359282(-;-)
Make rs80359282(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332840
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359282
ebirs80359282
HLIrs80359282
Exacrs80359282
Varsomers80359282
Maprs80359282
PheGenIrs80359282
hapmaprs80359282
1000 genomesrs80359282
hgdprs80359282
ensemblrs80359282
gopubmedrs80359282
geneviewrs80359282
scholarrs80359282
googlers80359282
pharmgkbrs80359282
gwascentralrs80359282
openSNPrs80359282
23andMers80359282
23andMe allrs80359282
SNP Nexus

SNPshotrs80359282
SNPdbers80359282
MSV3drs80359282
GWAS Ctlgrs80359282
Max Magnitude6
rs80359282, also known as 1590insA, c.1362_1363insA and p.Lys454_Ser455?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359282(A;A)
Alt rs80359282(A;A)
Reference rs80359282(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32906977dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112913.1,