MYO15A |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MYO15A (HGNC:7594) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- myosin XVA
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNB3, MYO15
- Alias symbols
- No aliases found
- %HI
- 39.27(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.8(Read more about gnomAD LOEUF score)
- Cytoband
- 17p11.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:18012070-18083114 NCBI Ensembl UCSC GRCh38/hg38: chr17:18108756-18179800 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016239.4 ENST00000647165.2 (Read more about MANE Select)
- Function
- Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity). {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12871
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- autosomal recessive nonsyndromic hearing loss 3 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)