MYO6
This page contains an overview of the genetic variation in the MYO6 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:
MYO6 gene and transcript details
Gene Name
myosin VI
Gene Links
Ensembl: ENSG00000196586 -
Locus Reference Genomic: LRG_438
Genomic Location
Chromosome 6 : 76,527,265 - 76,624,729 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3855 bases) | Protein (1285 aa) |
|---|---|---|
 |
ENST00000369977 | ENSP00000358994 |
 |
LRG_438t1 | LRG_438p1 |
 |
NM_004999.3 | |
 |
Summary of MYO6 in Cardiomyopathies
MYO6 variants in ExAC
Details of the protein-altering MYO6 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 | 463 | 0.00684 |
| Truncating | 25 | 0.00035 |
| Missense | 366 | 0.00554 |
| Inframe | 2 | 0.00001 |
| Splice Site | 70 | 0.00094 |