MYOM1

This page contains an overview of the genetic variation in the MYOM1 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

MYOM1 gene and transcript details

Gene Name
myomesin 1, 185kDa

Gene Links
Ensembl: ENSG00000101605 - Locus Reference Genomic: LRG_426

Genomic Location
Chromosome 18 : 3,067,260 - 3,215,221 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (5055 bases)Protein (1685 aa)
ENST00000356443 ENSP00000348821
LRG_426t1LRG_426p1
NM_003803.3
P52179

Summary of MYOM1 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of MYOM1 in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).


MYOM1 variants in ExAC

Details of the protein-altering MYOM1 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants7850.01307
Truncating660.00088
Missense6160.01101
Inframe70.00008
Splice Site960.00109

Rare variants are defined as having a mean allelic frequency of less than 0.0001.