rs104894654

Orientation

plus

Stabilized

plus

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

Make rs104894654(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

34794250

Gene

DTNA

is a	snp
is	mentioned by
dbSNP	rs104894654
dbSNP (classic)	rs104894654
ClinGen	rs104894654
ebi	rs104894654
HLI	rs104894654
Exac	rs104894654
Gnomad	rs104894654
Varsome	rs104894654
LitVar	rs104894654
Map	rs104894654
PheGenI	rs104894654
Biobank	rs104894654
1000 genomes	rs104894654
hgdp	rs104894654
ensembl	rs104894654
geneview	rs104894654
scholar	rs104894654
google	rs104894654
pharmgkb	rs104894654
gwascentral	rs104894654
openSNP	rs104894654
23andMe	rs104894654
SNPshot	rs104894654
SNPdbe	rs104894654
MSV3d	rs104894654
GWAS Ctlg	rs104894654

Max Magnitude

4

rs104894654, also known as c.362C>T, p.Pro121Leu and P121L, is a rare mutation in the DTNA gene on chromosome 18.

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

See OMIM 601239.0001

OMIM	601239
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894654(T;T)
Alt	rs104894654(T;T)
Reference	Rs104894654(C;C)
Significance	Pathogenic
Disease	Left ventricular noncompaction 1
Variation	info
Gene	DTNA
CLNDBN	Left ventricular noncompaction 1
Reversed	0
HGVS	NC_000018.9:g.32374214C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008804.4,