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Gene entry

CHRND

cholinergic receptor nicotinic delta subunit

Chromosome
2
Cytoband
2q37.1
Variants (rsID)
13

CHRND is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q37.1). Its official name is “cholinergic receptor nicotinic delta subunit”. The reference table lists 13 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs2289080Benignsingle nucleotide variantAutosomal recessive multiple pterygium syndrome|Congenital Myasthenic Syndrome, Dominant/Recessive|Lethal multiple pterygium syndrome
  • rs3762528Benignsingle nucleotide variantCongenital myasthenic syndrome|Lethal multiple pterygium syndrome
  • rs61744404Benignsingle nucleotide variantIsolated microphthalmia 6|Lethal multiple pterygium syndrome
  • rs114315112Conflicting interpretationssingle nucleotide variantCongenital Myasthenic Syndrome, Dominant/Recessive|Autosomal recessive multiple pterygium syndrome|Congenital myasthenic syndrome|Lethal multiple pterygium syndrome
  • rs148939701Conflicting interpretationssingle nucleotide variantLethal multiple pterygium syndrome|Congenital myasthenic syndrome
  • rs201733876Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome|Lethal multiple pterygium syndrome|Congenital myasthenic syndrome 3A|Lethal multiple pterygium syndrome|Congenital myasthenic syndrome 3B|Congenital myasthenic syndrome 3C|Congenital myasthenic syndrome 3A
  • rs41265127Conflicting interpretationssingle nucleotide variantLethal multiple pterygium syndrome|Congenital myasthenic syndrome
  • rs373747090Othersingle nucleotide variantMyasthenic Syndrome, Congenital, 1b, Fast-Channel|Multiple Pterygium Syndrome, Lethal Type
  • rs121909506Pathogenicsingle nucleotide variantLethal multiple pterygium syndrome
  • rs121909509Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 3B
  • rs146905561Uncertain significancesingle nucleotide variantCongenital myasthenic syndrome|Lethal multiple pterygium syndrome
  • rs147919651Uncertain significancesingle nucleotide variantLethal multiple pterygium 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.