• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MYO5A (HGNC:7602) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
myosin VA
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MYH12
Alias symbols
MYO5, GS1, MYR12
%HI
15.8(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.94(Read more about gnomAD pLI score)
LOEUF
0.3(Read more about gnomAD LOEUF score)
Cytoband
15q21.2
Genomic Coordinates
GRCh37/hg19: chr15:52599480-52821247 NCBI Ensembl UCSC
GRCh38/hg38: chr15:52307283-52529050 NCBI Ensembl UCSC
MANE Select Transcript
NM_001382347.1 ENST00000399233.7 (Read more about MANE Select)
Function
Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. {ECO:0000269|PubMed:10448864}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30950
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)