Gene
MYO7A
myosin VIIA
- HGNC 7606(opens in a new tab)
- Ensembl gene ENSG00000137474(opens in a new tab)
- NCBI Gene 4647(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.5
- Coordinates
- Chromosome 11: 77,128,246–77,215,241 (GRCh38)
- Exons
- 49 exons across 87 kb
- Protein
- 2,215 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- NSRD2
- Previous symbols
- USH1B, DFNB2, DFNA11
- MANE Select transcript
- ENST00000409709.9NM_000260.4
- 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.
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Get my Genome TestCurated reports relevant to this gene
Hearing Loss and Deafness
- Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant
Autosomal dominant form of nonsyndromic deafness.
- 2 GenCC submitters rate it definitive or strong
- Nonsyndromic Genetic Hearing Loss
One of 97 genes linked to it
Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.
Usher Syndrome
- Autosomal recessive
A group of recessive conditions (types 1 to 4) causing sensorineural hearing loss, progressive retinitis pigmentosa and, in some types, balance problems, linked to genes such as USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 and ARSG.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
An early diagnosis helps with decisions about the timing of cochlear implants, eye monitoring and eligibility for retinal therapy trials, and is relevant to carrier screening.
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.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How MYO7A is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- 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 7.5 kb of the gene's 87 kb; 6,648 of those bases code for the protein.
How a genome test reads MYO7A
591
positions in MYO7A where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (0.2%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 87 kb of MYO7A, introns included, not only the 7.5 kb of exons.
Variants with a page (19)
The MYO7A 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 |
|---|---|---|---|---|---|
| A1288P | c.3862G>C | Exon 30 | 77,190,808 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E968D | c.2904G>T | Exon 23 | 77,181,589 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2187D | c.6560G>A | Exon 49 | 77,214,608 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H133N | c.397C>A | Exon 5 | 77,156,018 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I134N | c.401T>A | Exon 5 | 77,156,022 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K2021R | c.6062A>G | Exon 45 | 77,211,162 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L326Q | c.977T>A | Exon 9 | 77,158,404 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1935P | c.5804T>C | Exon 42 | 77,207,350 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N1182K | c.3546C>A | Exon 28 | 77,189,386 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R395C | c.1183C>T | Exon 11 | 77,160,265 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to MYO7A
The Human Phenotype Ontology lists these as features of the rare conditions MYO7A 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.). MYO7A gene: myosin VIIA. Retrieved 16 October 2026, from https://dantelabs.com/genes/myo7a
Dante Labs. MYO7A gene: myosin VIIA [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/myo7a
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