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rs80359458

From SNPedia

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


Make rs80359458(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338909
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359458
ebirs80359458
HLIrs80359458
Exacrs80359458
Varsomers80359458
Maprs80359458
PheGenIrs80359458
hapmaprs80359458
1000 genomesrs80359458
hgdprs80359458
ensemblrs80359458
gopubmedrs80359458
geneviewrs80359458
scholarrs80359458
googlers80359458
pharmgkbrs80359458
gwascentralrs80359458
openSNPrs80359458
23andMers80359458
23andMe allrs80359458
SNP Nexus

SNPshotrs80359458
SNPdbers80359458
MSV3drs80359458
GWAS Ctlgrs80359458
Max Magnitude6
rs80359458, also known as 4782delA, c.4554_4554delA and p.Glu1518Aspfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359458(;)
Alt rs80359458(;)
Reference rs80359458(A;A)
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.32913046delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044439.2, RCV000113319.1,