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Gene entry

MYH3

myosin heavy chain 3

Chromosome
17
Cytoband
17p13.1
Variants (rsID)
33

MYH3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.1). Its official name is “myosin heavy chain 3”. The reference table lists 33 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs138194008Benignsingle nucleotide variantFreeman-Sheldon syndrome|Distal arthrogryposis type 2B1
  • rs17817203Benignsingle nucleotide variantFreeman-Sheldon syndrome|Distal arthrogryposis type 2B1
  • rs188588330Benignsingle nucleotide variantDistal arthrogryposis type 2B1|Freeman-Sheldon syndrome
  • rs201626Benignsingle nucleotide variantFreeman-Sheldon syndrome|Distal arthrogryposis type 2B1
  • rs2285477Benignsingle nucleotide variantFreeman-Sheldon syndrome|Distal arthrogryposis type 2B1|Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|Arthrogryposis, distal, type 2B3|Contractures, pterygia, and variable skeletal fusions syndrome 1B
  • rs375163919Benignsingle nucleotide variantDistal arthrogryposis type 2B1|Freeman-Sheldon syndrome
  • rs61735353Benignsingle nucleotide variantDistal arthrogryposis type 2B1|Freeman-Sheldon syndrome
  • rs145080512Conflicting interpretationssingle nucleotide variantDistal arthrogryposis type 2B1|Freeman-Sheldon syndrome|Arthrogryposis, distal, type 2B3
  • rs147304568Conflicting interpretationssingle nucleotide variantDistal arthrogryposis type 2B1|Freeman-Sheldon syndrome
  • rs34165480Conflicting interpretationssingle nucleotide variantFreeman-Sheldon syndrome|Distal arthrogryposis type 2B1
  • rs121913623Likely pathogenicsingle nucleotide variantArthrogryposis, distal, type 2B3|Freeman-Sheldon syndrome|Distal arthrogryposis type 2B1|Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.