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Gene

MYH7

myosin heavy chain 7

Summary

Cytogenetic location
14q11.2
Coordinates
Chromosome 14: 23,412,740–23,435,660 (GRCh38)
Exons
40 exons across 22.9 kb
Protein
1,935 amino acids
Inheritance
Autosomal dominant
Also known as
CMD1S
Previous symbols
CMH1, MPD1
MANE Select transcript
ENST00000355349.4NM_000257.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Congenital Myopathies

    • MYH7-related skeletal myopathyAutosomal dominant

      Skeletal muscle disorders caused by MYH7 variants, including Laing distal myopathy and myosin storage myopathy; some people also develop heart muscle disease.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

  • Distal Myopathies

    • Distal myopathy

      A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

  • Left Ventricular Noncompaction

    • A heart muscle condition with a thick, spongy inner layer of the left ventricle, linked to sarcomere genes such as MYH7, ACTC1, TNNT2, TPM1 and MYBPC3, and to LDB3, PRDM16 and MIB1.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Knowing about it supports heart imaging and rhythm monitoring and screening of relatives.

Broader groupings

  • 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 MYH7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 14, with a bracket where MYH7 sits. MYH7 and 30 genes near it on chromosome 14, from 22,924,200 to 23,924,199.Chromosome 1414q11.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3323 Mb23.2 Mb23.4 Mb23.6 Mb23.8 MbPRMT5: 22,920,108–22,929,458, reverse strandPRMT5HAUS4: 22,946,228–22,957,161, reverse strandHAUS4: 22,946,270–22,982,258, reverse strandAJUBA: 22,971,177–22,982,647, reverse strandAJUBAC14orf93: 22,985,894–23,010,529, reverse strandC14orf93PSMB5: 23,016,540–23,035,239, reverse strandPSMB5PSMB11: 23,042,212–23,044,060, forward strandPSMB11CDH24: 23,047,062–23,057,668, reverse strandCDH24ACIN1: 23,058,561–23,095,614, reverse strandACIN1C14orf119: 23,094,692–23,100,456, forward strandC14orf119CIROP: 23,099,062–23,105,018, reverse strandCIROPCEBPE: 23,117,036–23,120,256, reverse strandCEBPESLC7A8: 23,125,295–23,183,683, reverse strandSLC7A8RNF212B: 23,185,316–23,273,477, forward strandRNF212BHOMEZ: 23,258,697–23,299,796, reverse strandPPP1R3E: 23,295,652–23,302,950, reverse strandPPP1R3EBCL2L2: 23,298,790–23,313,069, forward strandBCL2L2BCL2L2-PABPN1: 23,306,833–23,326,175, forward strandPABPN1: 23,321,447–23,326,176, forward strandPABPN1SLC22A17: 23,346,314–23,352,912, reverse strandEFS: 23,353,248–23,366,287, reverse strandEFSIL25: 23,372,809–23,376,403, forward strandIL25CMTM5: 23,376,627–23,379,772, forward strandCMTM5MYH6: 23,380,206–23,408,945, reverse strandMYH6MYH7: 23,412,740–23,435,660, reverse strandMYH7NGDN: 23,469,464–23,510,024, forward strandNGDNZFHX2: 23,520,851–23,556,192, reverse strandZFHX2THTPA: 23,555,988–23,560,778, forward strandTHTPAAP1G2: 23,559,555–23,569,507, reverse strandAP1G2JPH4: 23,568,035–23,578,856, reverse strandJPH4DHRS2: 23,630,115–23,645,639, forward strandDHRS2Diagram of MYH7: 40 exons on the reverse strand of chromosome 14Exon 39: 10 known disease-causing sitesExon 38: 4 known disease-causing sitesExon 37: 13 known disease-causing sitesExon 36: 5 known disease-causing sitesExon 35: 6 known disease-causing sitesExon 34: 16 known disease-causing sitesExon 33: 3 known disease-causing sitesExon 32: 7 known disease-causing sitesExon 31: 8 known disease-causing sitesExon 30: 12 known disease-causing sitesExon 29: 1 known disease-causing siteExon 28: 2 known disease-causing sitesExon 27: 11 known disease-causing sitesExon 25: 8 known disease-causing sitesExon 23: 34 known disease-causing sitesExon 22: 52 known disease-causing sitesExon 21: 21 known disease-causing sitesExon 20: 15 known disease-causing sitesExon 19: 21 known disease-causing sitesExon 18: 10 known disease-causing sitesExon 17: 7 known disease-causing sitesExon 16: 28 known disease-causing sitesExon 15: 22 known disease-causing sitesExon 14: 16 known disease-causing sitesExon 13: 18 known disease-causing sitesExon 12: 10 known disease-causing sitesExon 11: 8 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 40: 23,412,740–23,412,871, 132 basesExon 39: 23,413,759–23,413,893, 135 bases. 1 variant with a page in exon 39. List themExon 38: 23,414,007–23,414,102, 96 bases. 1 variant with a page in exon 38. List themExon 37: 23,414,995–23,415,270, 276 bases. 1 variant with a page in exon 37. List themExon 36: 23,415,381–23,415,506, 126 bases. 1 variant with a page in exon 36. List themExon 35: 23,415,629–23,415,832, 204 bases. 2 variants with a page in exon 35. List themExon 34: 23,416,004–23,416,312, 309 basesExon 33: 23,416,868–23,416,992, 125 basesExon 32: 23,417,153–23,417,318, 166 bases. 1 variant with a page in exon 32. List themExon 31: 23,417,503–23,417,686, 184 bases. 2 variants with a page in exon 31. List themExon 30: 23,418,210–23,418,406, 197 bases. 5 variants with a page in exon 30. List themExon 29: 23,419,177–23,419,295, 119 basesExon 28: 23,419,483–23,419,609, 127 basesExon 27: 23,419,845–23,420,234, 390 bases. 3 variants with a page in exon 27. List themExon 26: 23,420,958–23,421,048, 91 basesExon 25: 23,422,180–23,422,325, 146 bases. 3 variants with a page in exon 25. List themExon 24: 23,423,547–23,423,723, 177 basesExon 23: 23,423,907–23,424,149, 243 bases. 12 variants with a page in exon 23. List themExon 22: 23,424,769–23,425,024, 256 bases. 20 variants with a page in exon 22. List themExon 21: 23,425,282–23,425,418, 137 bases. 5 variants with a page in exon 21. List themExon 20: 23,425,695–23,425,818, 124 bases. 6 variants with a page in exon 20. List themExon 19: 23,425,964–23,426,081, 118 bases. 9 variants with a page in exon 19. List themExon 18: 23,426,777–23,426,864, 88 bases. 4 variants with a page in exon 18. List themExon 17: 23,427,240–23,427,307, 68 bases. 1 variant with a page in exon 17. List themExon 16: 23,427,585–23,427,894, 310 bases. 7 variants with a page in exon 16. List themExon 15: 23,428,500–23,428,670, 171 bases. 6 variants with a page in exon 15. List themExon 14: 23,428,955–23,429,104, 150 bases. 10 variants with a page in exon 14. List themExon 13: 23,429,229–23,429,347, 119 bases. 5 variants with a page in exon 13. List themExon 12: 23,429,775–23,429,913, 139 bases. 3 variants with a page in exon 12. List themExon 11: 23,430,560–23,430,663, 104 bases. 1 variant with a page in exon 11. List themExon 10: 23,430,901–23,430,999, 99 basesExon 9: 23,431,418–23,431,481, 64 bases. 3 variants with a page in exon 9. List themExon 8: 23,431,585–23,431,677, 93 bases. 3 variants with a page in exon 8. List themExon 7: 23,431,761–23,431,869, 109 bases. 5 variants with a page in exon 7. List themExon 6: 23,432,479–23,432,506, 28 basesExon 5: 23,432,639–23,432,795, 157 bases. 3 variants with a page in exon 5. List themExon 4: 23,433,084–23,433,227, 144 basesExon 3: 23,433,532–23,433,740, 209 basesExon 2: 23,434,194–23,434,249, 56 basesExon 1: 23,435,620–23,435,660, 41 bases40383634323028262422201816141210864215′3′

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 6 kb of the gene's 22.9 kb; 5,808 of those bases code for the protein.

How a genome test reads MYH7

433

positions in MYH7 where ClinVar classes a change as pathogenic or likely pathogenic

83 of them (19%) fall in regions short reads find hard.

  • Low mappability (83 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 22.9 kb of MYH7, introns included, not only the 6 kb of exons.

Variants with a page (125)

The MYH7 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A868Pc.2602G>CExon 2223,424,846Likely pathogenic3 stars out of 4 reviewed by expert panel
D239Nc.715G>AExon 823,431,602Likely pathogenic3 stars out of 4 reviewed by expert panel
D906Gc.2717A>GExon 2323,424,112Pathogenic3 stars out of 4 reviewed by expert panel
E894Gc.2681A>GExon 2323,424,148Pathogenic3 stars out of 4 reviewed by expert panel
E931delc.2791_2793delExon 2323,424,035Likely pathogenic3 stars out of 4 reviewed by expert panel
E949Kc.2845G>AExon 2323,423,984Likely pathogenic3 stars out of 4 reviewed by expert panel
E1356Kc.4066G>AExon 3023,418,313Pathogenic3 stars out of 4 reviewed by expert panel
E1801Kc.5401G>AExon 3723,415,153Likely pathogenic3 stars out of 4 reviewed by expert panel
E1914Kc.5740G>AExon 3923,413,809Likely pathogenic3 stars out of 4 reviewed by expert panel
G584Rc.1750G>CExon 1623,427,723Pathogenic3 stars out of 4 reviewed by expert panel

See all 125 MYH7 variants →

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

APA

Dante Labs. (n.d.). MYH7 gene: myosin heavy chain 7. Retrieved 17 October 2026, from https://dantelabs.com/genes/myh7

Vancouver

Dante Labs. MYH7 gene: myosin heavy chain 7 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myh7

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