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Gene entry

DEPDC5

DEP domain containing 5, GATOR1 subcomplex subunit

Chromosome
22
Cytoband
22q12.2-q12.3
Variants (rsID)
39

DEPDC5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q12.2-q12.3). Its official name is “DEP domain containing 5, GATOR1 subcomplex subunit”. The reference table lists 39 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs118001924Benignsingle nucleotide variantFamilial focal epilepsy with variable foci|Seizure
  • rs146449468Benignsingle nucleotide variantFamilial focal epilepsy with variable foci|Seizure
  • rs16989535Benignsingle nucleotide variantFamilial focal epilepsy with variable foci|Childhood epilepsy with centrotemporal spikes|Seizure
  • rs181347577Benignsingle nucleotide variantChildhood epilepsy with centrotemporal spikes|Seizure|Epilepsy, familial focal, with variable foci 1|Familial focal epilepsy with variable foci
  • rs199749859Benignsingle nucleotide variantFamilial focal epilepsy with variable foci|Seizure
  • rs200653339Benignsingle nucleotide variantFamilial focal epilepsy with variable foci|Epilepsy, familial focal, with variable foci 1
  • rs371377906Benignsingle nucleotide variantEpilepsy, familial focal, with variable foci 1|Childhood epilepsy with centrotemporal spikes|Seizure|Familial focal epilepsy with variable foci
  • rs41311139Benignsingle nucleotide variantFamilial focal epilepsy with variable foci|Seizure
  • rs5998135Benignsingle nucleotide variantSeizure|Familial focal epilepsy with variable foci
  • rs61731662Benignsingle nucleotide variantFamilial focal epilepsy with variable foci|Seizure
  • rs61731667Benignsingle nucleotide variantFamilial focal epilepsy with variable foci|Seizure
  • rs142540948Conflicting interpretationssingle nucleotide variantEpilepsy, familial focal, with variable foci 1|Childhood epilepsy with centrotemporal spikes|Familial focal epilepsy with variable foci
  • rs144712084Conflicting interpretationssingle nucleotide variantFamilial focal epilepsy with variable foci|Seizure
  • rs185576553Conflicting interpretationssingle nucleotide variantFamilial focal epilepsy with variable foci|Seizure
  • rs886039255Pathogenicsingle nucleotide variantEpilepsy, familial focal, with variable foci 1|Familial focal epilepsy with variable foci
  • rs187334123Uncertain significancesingle nucleotide variantEpilepsy, familial focal, with variable foci 1|Childhood epilepsy with centrotemporal spikes|Familial focal epilepsy with variable foci
  • rs202227830Uncertain significancesingle nucleotide variantSeizure|Familial focal epilepsy with variable foci

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.