The DYNC1H1 gene homepage

General information
Gene symbol DYNC1H1
Gene name dynein, cytoplasmic 1, heavy chain 1
Chromosome 14
Chromosomal band q32.31
Imprinted Unknown
Genomic reference NG_008777.1
Transcript reference NM_001376.4
Exon/intron information NM_001376.4 exon/intron table
Associated with diseases CMT-2O, ID, MRD-13, atrophy, muscular, spinal, lower extremity, autosomal dominant
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 334
Unique public DNA variants reported 260
Individuals with public variants 37
Hidden variants 36
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 03, 2021
Version DYNC1H1:210303

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_001376.4.
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/DYNC1H1
HGNC 2961
Entrez Gene 1778
PubMed articles DYNC1H1
OMIM - Gene 600112
OMIM - Diseases CMT-2O (Charcot-Marie-Tooth disease, axonal, type 2O (CMT-2O))
MRD-13 (mental retardation, autosomal dominant, type 13 (MRD-13))
atrophy, muscular, spinal, lower extremity, autosomal dominant
HGMD DYNC1H1
GeneCards DYNC1H1
GeneTests DYNC1H1
Orphanet DYNC1H1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006789 14 dynein, cytoplasmic 1, heavy chain 1 NM_001376.4 NP_001367.2 334


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