The DHX30 gene homepage

General information
Gene symbol DHX30
Gene name DEAH (Asp-Glu-Ala-His) box polypeptide 30
Chromosome 3
Chromosomal band p24.3-p22.1
Imprinted Unknown
Genomic reference NC_000003.11
Transcript reference NM_138615.2
Exon/intron information NM_138615.2 exon/intron table
Associated with diseases NDD, NEDMIAL
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 48
Unique public DNA variants reported 26
Individuals with public variants 32
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated April 09, 2021
Version DHX30:210409

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_138615.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/DHX30
HGNC 16716
Entrez Gene 22907
PubMed articles DHX30
OMIM - Gene 616423
OMIM - Diseases NEDMIAL (neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL))
HGMD DHX30
GeneCards DHX30
GeneTests DHX30
Orphanet DHX30


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006406 3 transcript variant 1 NM_138615.2 NP_619520.1 48


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