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rs45514002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 left ventricular noncompaction (reported)
(G;G) 0 common in clinvar


Make rs45514002(A;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position86726175
GeneLDB3
is asnp
is mentioned by
dbSNPrs45514002
ebirs45514002
HLIrs45514002
Exacrs45514002
Varsomers45514002
Maprs45514002
PheGenIrs45514002
hapmaprs45514002
1000 genomesrs45514002
hgdprs45514002
ensemblrs45514002
gopubmedrs45514002
geneviewrs45514002
scholarrs45514002
googlers45514002
pharmgkbrs45514002
gwascentralrs45514002
openSNPrs45514002
23andMers45514002
23andMe allrs45514002
SNP Nexus

SNPshotrs45514002
SNPdbers45514002
MSV3drs45514002
GWAS Ctlgrs45514002
GMAF0.001377
Max Magnitude4

rs45514002, also known as c.2017G>A, p.Asp673Asn and D673N as well as Asp626Asn, is a rare mutation in the LDB3 gene on chromosome 10.

Inherited as an autosomal dominant, it reportedly leads to a form of left ventricular noncompaction.

See OMIM 605906.0009

OMIM605906
Desc
Variant0009
Relatedalso
ClinVar
Risk rs45514002(A;A)
Alt rs45514002(A;A)
Reference rs45514002(G;G)
Significance Pathogenic
Disease Dilated cardiomyopathy 1C Left ventricular noncompaction 3
Variation info
Gene LDB3
CLNDBN Dilated cardiomyopathy 1C Left ventricular noncompaction 3
Reversed 0
HGVS NC_000010.10:g.88485932G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005000.4, RCV000005001.4,