MYH7
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MYH7 (HGNC:7577) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
myosin heavy chain 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CMH1, MPD1
Alias symbols
CMD1S
%HI
14.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.64(Read more about gnomAD LOEUF score)
Cytoband
14q11.2
Genomic Coordinates
GRCh37/hg19: chr14:23881949-23904869 NCBI Ensembl UCSC
GRCh38/hg38: chr14:23412740-23435660 NCBI Ensembl UCSC
MANE Select Transcript
NM_000257.4 ENST00000355349.4 (Read more about MANE Select)
Function
Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle. {ECO:0000305|PubMed:26150528, ECO:0000305|PubMed:26246073}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35182
ClinGen Curation ID:
CCID:007504
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/16/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
To date only articles discussing missense mutations in the MYH7 gene have been described in the literature as being associated with Familial hypertrophic cardiomyopathy, dilated cardiomyopathy, Laing Distal Myopathy (LDM), Myosin Storage Myopathy (PMID:23346452, 12788380, 12707239, 21846512, 25576864,24664454 ). PMID: 12788380 does however describe a three base pair deletion leading to an amnio acid loss glutamic acid in position 927. There was no disruption of the reading frame downstream of the deletion.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)