The DNAH5 gene homepage

General information
Gene symbol DNAH5
Gene name dynein, axonemal, heavy chain 5
Chromosome 5
Chromosomal band p15.2
Imprinted Unknown
Genomic reference NG_013081.2
Transcript reference NM_001369.2
Exon/intron information NM_001369.2 exon/intron table
Associated with diseases CILD3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 326
Unique public DNA variants reported 261
Individuals with public variants 710
Hidden variants 50
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated March 07, 2024
Version DNAH5:240307

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_001369.2.
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/DNAH5
HGNC 2950
Entrez Gene 1767
PubMed articles DNAH5
OMIM - Gene 603335
OMIM - Diseases CILD3 (dyskinesia, ciliary, primary, 3 (CILD-3))
HGMD DNAH5
GeneCards DNAH5
GeneTests DNAH5
Orphanet DNAH5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006519 5 dynein, axonemal, heavy chain 5 NM_001369.2 NP_001360.1 326


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