Gene
MYL3
myosin light chain 3
- HGNC 7584(opens in a new tab)
- Ensembl gene ENSG00000160808(opens in a new tab)
- NCBI Gene 4634(opens in a new tab)
Summary
- Cytogenetic location
- 3p21.31
- Coordinates
- Chromosome 3: 46,857,872–46,863,444 (GRCh38)
- Exons
- 7 exons across 5.6 kb
- Protein
- 195 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- CMH8, VLC1, MLC1V, MLC1SB
- MANE Select transcript
- ENST00000292327.6NM_000258.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read MYL3, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How MYL3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.9 kb of the gene's 5.6 kb; 588 of those bases code for the protein.
How a genome test reads MYL3
7
positions in MYL3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 5.6 kb of MYL3, introns included, not only the 0.9 kb of exons.
Variants with a page (1)
The MYL3 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| R94H | c.281G>A | Exon 3 | 46,860,702 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to MYL3
The Human Phenotype Ontology lists these as features of the rare conditions MYL3 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MYL3 gene: myosin light chain 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/myl3
Dante Labs. MYL3 gene: myosin light chain 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myl3
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks