MYH14 |
Gene Facts External Data Attribution
- HGNC Symbol
- MYH14 (HGNC:23212) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- myosin heavy chain 14
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNA4
- Alias symbols
- FLJ13881, KIAA2034, MHC16, MYH17
- %HI
- 64.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.65(Read more about gnomAD LOEUF score)
- Cytoband
- 19q13.33
- Genomic Coordinates
-
GRCh37/hg19: chr19:50706879-50813797 NCBI Ensembl UCSC GRCh38/hg38: chr19:50203622-50310540 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001145809.2 ENST00000642316.2 (Read more about MANE Select)
- Function
- Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-8422
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)