rs121908337

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4	left ventricular noncompaction (reported)

Make rs121908337(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

86681731

Gene

LDB3

is a	snp
is	mentioned by
dbSNP	rs121908337
dbSNP (classic)	rs121908337
ClinGen	rs121908337
ebi	rs121908337
HLI	rs121908337
Exac	rs121908337
Gnomad	rs121908337
Varsome	rs121908337
LitVar	rs121908337
Map	rs121908337
PheGenI	rs121908337
Biobank	rs121908337
1000 genomes	rs121908337
hgdp	rs121908337
ensembl	rs121908337
geneview	rs121908337
scholar	rs121908337
google	rs121908337
pharmgkb	rs121908337
gwascentral	rs121908337
openSNP	rs121908337
23andMe	rs121908337
SNPshot	rs121908337
SNPdbe	rs121908337
MSV3d	rs121908337
GWAS Ctlg	rs121908337

Max Magnitude

4

rs121908337, also known as c.617C>T, p.Thr206Ile and T206I, 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 605906.0006

OMIM	605906
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908337(T;T)
Alt	rs121908337(T;T)
Reference	Rs121908337(C;C)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1C
Variation	info
Gene	LDB3
CLNDBN	Dilated cardiomyopathy 1C
Reversed	0
HGVS	NC_000010.10:g.88441488C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004997.3,