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Gene entry

CLN3

CLN3 lysosomal/endosomal transmembrane protein, battenin

Chromosome
16
Cytoband
16p12.1
Variants (rsID)
18

CLN3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p12.1). Its official name is “CLN3 lysosomal/endosomal transmembrane protein, battenin”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

13 reference-table entries with clinical significance.

  • rs11552531Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis 3
  • rs77595156Benignsingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis
  • rs1142183Conflicting interpretationssingle nucleotide variantSeizure|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 3
  • rs145967477Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis
  • rs146610181Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 3
  • rs201206239Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 3
  • rs201824641Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis|Seizure|Neuronal ceroid lipofuscinosis 3
  • rs368568189Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 3
  • rs386833738Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 3|Ceroid lipofuscinosis, neuronal, 3, protracted|Neuronal ceroid lipofuscinosis
  • rs386833744Likely pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis
  • rs386833694Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis
  • rs386833695Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis
  • rs386833740PathogenicDuplicationNeuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis

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.