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Gene entry

CPA6

carboxypeptidase A6

Chromosome
8
Cytoband
8q13.2
Variants (rsID)
77

CPA6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q13.2). Its official name is “carboxypeptidase A6”. The reference table lists 77 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs10957393Benignsingle nucleotide variantFamilial temporal lobe epilepsy 5|Febrile seizures, familial, 11
  • rs138313759Benignsingle nucleotide variantFamilial temporal lobe epilepsy 5|Febrile seizures, familial, 11
  • rs17853192Benignsingle nucleotide variantFamilial temporal lobe epilepsy 5|Febrile seizures, familial, 11
  • rs114402678Conflicting interpretationssingle nucleotide variantFebrile seizures, familial, 11|Familial temporal lobe epilepsy 5|Intellectual disability
  • rs143321447Conflicting interpretationssingle nucleotide variantFamilial temporal lobe epilepsy 5|Febrile seizures, familial, 11|Familial temporal lobe epilepsy 5|Febrile seizures, familial, 11
  • rs147046973Conflicting interpretationssingle nucleotide variantFebrile seizures, familial, 11|Febrile seizures, familial, 11|Familial temporal lobe epilepsy 5
  • rs35993949Conflicting interpretationssingle nucleotide variantFamilial temporal lobe epilepsy 5|Global developmental delay|Childhood epilepsy with centrotemporal spikes|Febrile seizures, familial, 11|7 conditions|Familial temporal lobe epilepsy 5|Febrile seizures, familial, 11
  • rs773734224Conflicting interpretationssingle nucleotide variantFamilial temporal lobe epilepsy 5
  • rs3395Likely benignsingle nucleotide variantFamilial temporal lobe epilepsy 5
  • rs151119622Uncertain significancesingle nucleotide variantFamilial temporal lobe epilepsy 5|Febrile seizures, familial, 11
  • rs183899632Uncertain significancesingle nucleotide variantFebrile seizures, familial, 11|Familial temporal lobe epilepsy 5|Seizure

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.