MYH7

This page contains an overview of the genetic variation in the MYH7 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:

MYH7 gene and transcript details

Gene Name
myosin, heavy chain 7, cardiac muscle, beta

Gene Links
Ensembl: ENSG00000092054 - Locus Reference Genomic: LRG_384

Genomic Location
Chromosome 14 : 23,882,063 - 23,902,941 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (5805 bases)	Protein (1935 aa)
	ENST00000355349	ENSP00000347507
	LRG_384t1	LRG_384p1
	NM_000257.2
		P12883

Summary of MYH7 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.14218	0.01398	12.82%
Truncating	0.00082	0.00048	0.03%
Non-Truncating	0.14136	0.01350	12.79%

Based on an analysis of rare variants (MAF<0.0001) in MYH7 detected in a cohort of 6112 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.05323	0.01398	3.93%
Truncating	0.00076	0.00048	0.03%
Non-Truncating	0.05247	0.01350	3.90%

Based on an analysis of rare variants (MAF<0.0001) in MYH7 detected in a cohort of 1315 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

MYH7 variants in ExAC

Details of the protein-altering MYH7 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 Variants	Combined frequency of rare variants
All Variants	563	0.00927
Truncating	26	0.00024
Missense	421	0.00675
Inframe	0	0.00000
Splice Site	116	0.00228

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