Genetics University — Research, Education, Medical Genetics
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Gene entry

MSX1

msh homeobox 1

Chromosome
4
Cytoband
4p16.2
Variants (rsID)
6

MSX1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p16.2). Its official name is “msh homeobox 1”. The reference table lists 6 variants (rsID) for this gene.

Clinically classified variants

2 reference-table entries with clinical significance.

  • rs104893854Likely benignsingle nucleotide variantOrofacial cleft 5|Hypoplastic enamel-onycholysis-hypohidrosis syndrome
  • rs104893853Pathogenicsingle nucleotide variantHypoplastic enamel-onycholysis-hypohidrosis syndrome

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.