MYO5A gene homepage

General information
Gene symbol MYO5A
Gene name myosin VA (heavy chain 12, myoxin)
Chromosome 15
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_009887.1
Transcript reference NM_000259.3
Associated with diseases ID, Griscelli syndrome, type 1
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 92
Unique public DNA variants reported 58
Individuals with public variants 31
Hidden variants 3
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated August 06, 2020
Version MYO5A:200806

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL Orphanet
HGNC 7602
Entrez Gene 4644
PubMed articles MYO5A
OMIM - Gene 160777
OMIM - Diseases Griscelli syndrome, type 1
GeneCards MYO5A
GeneTests MYO5A

Active transcripts




NCBI ID     

NCBI Protein ID     

00000023 15 myosin VA (heavy chain 12, myoxin), transcript variant 1 NM_000259.3 NP_000250.3 92

Copyright & disclaimer
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