The MYH8 gene homepage

General information
Gene symbol MYH8
Gene name myosin, heavy chain 8, skeletal muscle, perinatal
Chromosome 17
Chromosomal band pter-p12
Imprinted Unknown
Genomic reference NG_013015.1
Transcript reference NM_002472.2
Exon/intron information NM_002472.2 exon/intron table
Associated with diseases DA7, Carney complex variant
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 49
Unique public DNA variants reported 38
Individuals with public variants 61
Hidden variants 5
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 June 29, 2022
Version MYH8:220629

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_002472.2.
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
HGNC 7578
Entrez Gene 4626
PubMed articles MYH8
OMIM - Gene 160741
OMIM - Diseases DA7 (Trismus-pseudocamptodactyly syndrome)
Carney complex variant
GeneCards MYH8
GeneTests MYH8
Orphanet MYH8

Active transcripts




NCBI ID     

NCBI Protein ID     

00014140 17 myosin, heavy chain 8, skeletal muscle, perinatal NM_002472.2 NP_002463.2 49

Copyright & disclaimer
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