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Gene entry

MCOLN1

mucolipin TRP cation channel 1

Chromosome
19
Cytoband
19p13.2
Variants (rsID)
10

MCOLN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.2). Its official name is “mucolipin TRP cation channel 1”. The reference table lists 10 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs612862Benignsingle nucleotide variantMucolipidosis type IV
  • rs73003348Conflicting interpretationssingle nucleotide variantMucolipidosis type IV
  • rs104886461Pathogenicsingle nucleotide variantMucolipidosis type IV|Mucolipidosis
  • rs121908371Pathogenicsingle nucleotide variantMucolipidosis type IV
  • rs121908372Pathogenicsingle nucleotide variantMucolipidosis type IV
  • rs121908373Pathogenicsingle nucleotide variantMucolipidosis type IV
  • rs121908374Pathogenicsingle nucleotide variantMucolipidosis type IV
  • rs755042147PathogenicDeletionMucolipidosis type IV
  • rs797044824Pathogenicsingle nucleotide variantMucolipidosis type IV

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.