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Gene entry

CPT1A

carnitine palmitoyltransferase 1A

Chromosome
11
Cytoband
11q13.3
Variants (rsID)
29

CPT1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.3). Its official name is “carnitine palmitoyltransferase 1A”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs140958507Benignsingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency
  • rs189174414Likely pathogenicsingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency
  • rs80356798Likely pathogenicsingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency
  • rs191107774Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency
  • rs80356774Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency
  • rs80356779Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency|CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM|CPT1A ARCTIC VARIANT
  • rs80356780Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency
  • rs80356775Uncertain significancesingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency
  • rs80356796Uncertain significancesingle nucleotide variantCarnitine palmitoyl transferase 1A deficiency

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.