MYH6

This page contains an overview of the genetic variation in the MYH6 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:

MYH6 gene and transcript details

Gene Name
myosin, heavy chain 6, cardiac muscle, alpha

Gene Links
Ensembl: ENSG00000197616 - Locus Reference Genomic: LRG_389

Genomic Location
Chromosome 14 : 23,851,249 - 23,876,432 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (5817 bases)	Protein (1939 aa)
	ENST00000356287	ENSP00000348634
	LRG_389t1	LRG_389p1
	NM_002471.3
		P13533

Summary of MYH6 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.02479	0.02466	0.01%
Truncating	0.00000	0.00128	-0.13%
Non-Truncating	0.02479	0.02336	0.14%

Based on an analysis of rare variants (MAF<0.0001) in MYH6 detected in a cohort of 121 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of MYH6 in HCM (see study in the European Heart Journal), it is classified as:
Weak Evidence.

MYH6 variants in ExAC

Details of the protein-altering MYH6 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	842	0.01431
Truncating	52	0.00064
Missense	659	0.01163
Inframe	4	0.00005
Splice Site	127	0.00199

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