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Introduction
The CPT1A gene, which stands for carnitine palmitoyltransferase 1A, is located on chromosome 11q13.3, has 19 exons spanning ~60kb and encodes a 774 amino acid protein, Carnitine Palmitoyltransferase I or CPT I (1). The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (located in the outer membrane) and carnitine palmitoyltransferase II (located in the inner membrane), together with a carnitine-acylcarnitine translocase (2). CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation (2). The protein catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion (3).
The CPT I protein is expressed at high levels in kidney and heart and at lower levels in liver and skeletal muscle (3).
More than 94 unique disease-causing variants in the CPT1A gene have been identified in CPT I patients and are represented in this database (4). The variants occur across the entire length of the gene and include frameshift, splice site, copy-number, nonsense and missense variants.
Variant List
To see more information, click on the Variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and ACMG classification please use the following links here.
| Variant ID | Variant | Amino Acid Change | Gene Symbol | Variant Type | Effect Type | Display ACMG Call | Disease Subtype | Times Observed | Phenotype | PMID | Location | Present in ClinVar |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CPT1A_0095 | c.694-?_967+?dup | Gain (Exons 7-9) | CPT1A | Likely Pathogenic | CPT I | <5 | Unknown | |||||
| CPT1A_0001 | c.2246G>A | p.Arg749His | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Developmental delay | 34374989, 35360862 | Exon 19 | No |
| CPT1A_0002 | c.2238T>G | p.Asp746Glu | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Myopathy | Exon 19 | Yes | |
| CPT1A_0096 | c.2235+4T>C | Intronic | CPT1A | SNV | Splice region | Uncertain Significance | CPT I | <5 | Elevated circulating creatine kinase concentration | Intron 18 | Yes | |
| CPT1A_0003 | c.2215A>G | p.Lys739Glu | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 33123633 | Exon 18 | No | |
| CPT1A_0004 | c.2201T>C | p.Phe734Ser | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 34233743 | Exon 18 | No | |
| CPT1A_0005 | c.2198A>G | p.Asn733Ser | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 34023347 | Exon 18 | Yes | |
| CPT1A_0006 | c.2156G>A | p.Gly719Asp | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 19345525 | Exon 18 | No | |
| CPT1A_0007 | c.2142G>A | p.Pro714= | CPT1A | SNV | Silent | Uncertain Significance | CPT I | <5 | Exon 17 | Yes | ||
| CPT1A_0009 | c.2136del | p.Phe712Leufs*43 | CPT1A | Deletion | Frameshift | Likely Pathogenic | CPT I | <5 | 30887117 | Exon 17 | Yes | |
| CPT1A_0010 | c.2129G>A | p.Gly710Glu | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | 11-20 | "Deep vein thrombosis, Dehydration, Developmental delay, Diarrhea, Encephalopathy, Gastrointestinal-other, Hypoglycemia, Lethargy, Limp, Liver abnormality, Pancreatitis, Pneumococcal septicemia, Residual left hemiparesis, Respiratory tract infection, Rhabdomyolysis, Seizure, Steatosis, Vomiting" | 11350182, 11350183, 1403388 | Exon 17 | Yes |
| CPT1A_0011 | c.2126G>A | p.Gly709Glu | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Hypoglycemia, Hypotonic, Liver abnormality, Peripheral oedema | 14517221, 9048718 | Exon 17 | Yes |
| CPT1A_0012 | c.2125G>A | p.Gly709Arg | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 35281663, 35360862 | Exon 17 | Yes | |
| CPT1A_0013 | c.2122A>C | p.Ser708Arg | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | 5-10 | "Abnormality of metabolism/homeostasis, Coagulopathy, Encephalopathy, Global cerebral injury, Hypoglycemia, Liver abnormality, Mild cerebral atrophy, Renal insufficiency/failure" | 35822099 | Exon 17 | No |
| CPT1A_0014 | c.2028+3_2028+6del | Intronic | CPT1A | Deletion | Splice region | Likely Pathogenic | CPT I | <5 | Hypoglycemia, Reye syndrome-like episodes | 12111367 | Intron 16 | Yes |
| CPT1A_0015 | c.1964G>A | p.Arg655His | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Acute severe pancreatitis, Fever, Hemolysis, Jaundice, Liver abnormality, Renal tubular acidosis | 31234250 | Exon 16 | No |
| CPT1A_0016 | c.1948G>A | p.Gly650Ser | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 35281663 | Exon 16 | Yes | |
| CPT1A_0018 | c.1910C>T | p.Ser637Phe | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 36246604 | Exon 16 | Yes | |
| CPT1A_0017 | c.1910C>A | p.Ser637Tyr | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 35360862 | Exon 16 | No | |
| CPT1A_0019 | c.1907C>T | p.Ala636Val | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 30617651 | Exon 16 | Yes | |
| CPT1A_0020 | c.1889T>G | p.Leu630Arg | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 34728707 | Exon 16 | No | |
| CPT1A_0097 | c.1876G>C | p.Val626Leu | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 16 | Yes | ||
| CPT1A_0021 | c.1850G>A | p.Arg617Gln | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 15 | Yes | ||
| CPT1A_0022 | c.1817G>A | p.Arg606His | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 35360862 | Exon 15 | Yes | |
| CPT1A_0098 | c.1813G>A | p.Val605Met | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Elevated circulating creatine kinase concentration, Myopathy, Other, Peripheral neuropathy | Exon 15 | Yes | |
| CPT1A_0023 | c.1783C>T | p.Arg595Trp | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | "Anorexia, Cerebral hyperexcitability, Coma, Dehydration, Developmental delay, Diarrhea, Gastrointestinal-other, Hypoglycemia, Liver abnormality, Seizure, Speaking difficulties, Vomiting" | 23430932 | Exon 15 | Yes |
| CPT1A_0024 | c.1762_1766dup | p.Tyr589* | CPT1A | Insertion | Frameshift | Pathogenic | CPT I | <5 | Cough, Diarrhea, Fever, Gastrointestinal-other, Hypoglycemia, Jaundice, Liver abnormality, Muscle weakness, Pulmonary/respiratory, Vomiting | 23430491 | Exon 15 | Yes |
| CPT1A_0025 | c.1737C>A | p.Tyr579* | CPT1A | SNV | Nonsense | Pathogenic | CPT I | <5 | Apathy, Encephalopathy, Lethargy, Otitis media, Vomiting | 16146704 | Exon 14 | Yes |
| CPT1A_0099 | c.1685G>C | p.Cys562Ser | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 14 | Yes | ||
| CPT1A_0026 | c.1683del | p.Lys561Asnfs*33 | CPT1A | Deletion | Frameshift | Likely Pathogenic | CPT I | <5 | 28771436 | Exon 14 | No | |
| CPT1A_0100 | c.1658C>T | p.Ala553Val | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 14 | Yes | ||
| CPT1A_0101 | c.1625A>G | p.Asn542Ser | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 14 | No | ||
| CPT1A_0027 | c.1600del | p.Leu534* | CPT1A | Deletion | Frameshift | Pathogenic | CPT I | <5 | Encephalopathy, Hypoglycemia | 16146704 | Exon 14 | Yes |
| CPT1A_0028 | c.1518C>T | p.Gly506= | CPT1A | SNV | Silent | Uncertain Significance | CPT I | <5 | Exon 13 | Yes | ||
| CPT1A_0107 | c.1497G>A | p.Ala499= | CPT1A | SNV | Silent | Uncertain Significance | CPT I | <5 | Exon 13 | Yes | ||
| CPT1A_0102 | c.1496C>T | p.Ala499Val | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Elevated circulating creatine kinase concentration, Hypoglycemia, Rhabdomyolysis | Exon 13 | Yes | |
| CPT1A_0030 | c.1493A>G | p.Tyr498Cys | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | "Abnormal truncal coordination, Abnormality of metabolism/homeostasis, Aminoaciduria, Cerebral atrophy, Klebsiella sepsis, Liver abnormality, Petechiae, Phosphaturia, Pulmonary/respiratory, Seizure, Unresponsiveness" | 12189492, 2768784 | Exon 13 | Yes |
| CPT1A_0031 | c.1493A>C | p.Tyr498Ser | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Abnormality of metabolism/homeostasis, Encephalopathy, Hyperlipidemia, Hypoglycemia, Renal tubular acidosis | 17060594, 21962599 | Exon 13 | No |
| CPT1A_0032 | c.1456_1458+1del | Intronic | CPT1A | Deletion | Splice donor | Pathogenic | CPT I | <5 | Hyperammonemia, Hypoglycemia, Liver abnormality | 30617651 | Exon 12, Intron 12 | No |
| CPT1A_0033 | c.1451T>C | p.Leu484Pro | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 11441142, 3211616 | Exon 12 | Yes | |
| CPT1A_0034 | c.1436C>T | p.Pro479Leu | CPT1A | SNV | Missense | Conflict | CPT I | 30+ | Asthma, Eczema, Encephalopathy, Hypoglycemia, Liver abnormality, Loss of consciousness, Muscle cramping, Pain, Rhabdomyolysis, Seizure, Vomiting | 11441142, 19181627, 30887117, 35442417, 36109795 | Exon 12 | Yes |
| CPT1A_0035 | c.1433C>T | p.Ala478Val | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Recurrent acute pancreatitis | 23700290 | Exon 12 | Yes |
| CPT1A_0036 | c.1394G>A | p.Gly465Glu | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | "Autism/behavior, Developmental delay, Hypertelorism, Hypotonia, Liver abnormality, Macrocephaly, Mild facial dysmorphism, Prominent forehead, Respiratory tract infection, Short philtrum" | 32781271 | Exon 12 | Yes |
| CPT1A_0037 | c.1393G>T | p.Gly465Trp | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Hepatic encephalopathy, Hypoglycemia | 15110323 | Exon 12 | Yes |
| CPT1A_0038 | c.1393G>A | p.Gly465Arg | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | "Abnormal renal morphology, Abnormality of metabolism/homeostasis, Craniosynostosis, Hyperbilirubinemia, Hypoglycemia, Icteric sclera, Jaundice, Liver abnormality, Noroviral enteritis, Renal tubular acidosis, Respiratory tract infection, Scaphocephaly" | 27066452 | Exon 12 | Yes |
| CPT1A_0039 | c.1367C>T | p.Ser456Leu | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Recurrent acute pancreatitis | 23700290 | Exon 12 | Yes |
| CPT1A_0040 | c.1364A>C | p.Lys455Thr | CPT1A | SNV | Missense | Pathogenic | CPT I | 11-20 | "Abnormality of metabolism/homeostasis, Anemia, Encephalopathy, Hyperammonemia, Hyperlipidemia, Hypoglycemia, Icterus, Lethargy, Liver abnormality, Loss of consciousness, Mild disturbance of consciousness, Nausea, Renal tubular acidosis, Thrombocytopenia, Transient loss of consciousness, Vomiting" | 15970898, 17060594, 21962599 | Exon 12 | Yes |
| CPT1A_0041 | c.1361A>G | p.Asp454Gly | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Abnormality of metabolism/homeostasis, Diarrhea, Encephalopathy, Feeding difficulties, Hypoglycemia, Hypotonia, Lethargy, Liver abnormality | 9691089 | Exon 12 | Yes |
| CPT1A_0042 | c.1339C>T | p.Arg447* | CPT1A | SNV | Nonsense | Pathogenic | CPT I | <5 | 19345525 | Exon 11 | Yes | |
| CPT1A_0043 | c.1336G>A | p.Gly446Ser | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 30904546, 34869124, 35360862 | Exon 11 | No | |
| CPT1A_0044 | c.1328T>C | p.Leu443Pro | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 35360862 | Exon 11 | No | |
| CPT1A_0045 | c.1318G>A | p.Ala440Thr | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | 5-10 | 27295194, 34233743 | Exon 11 | No | |
| CPT1A_0046 | c.1295C>T | p.Pro432Leu | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 35360862 | Exon 11 | No | |
| CPT1A_0047 | c.1241C>T | p.Ala414Val | CPT1A | SNV | Missense | Pathogenic | CPT I | <5 | "Abnormal truncal coordination, Abnormality of metabolism/homeostasis, Aminoaciduria, Cerebral atrophy, Klebsiella sepsis, Liver abnormality, Petechiae, Phosphaturia, Pulmonary/respiratory, Seizure, Unresponsiveness" | 12189492, 27295194, 2768784 | Exon 11 | Yes |
| CPT1A_0048 | c.1199G>C | p.Gly400Ala | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 11 | Yes | ||
| CPT1A_0049 | c.1184_1186del | p.Arg395del | CPT1A | Deletion | Deletion | Likely Pathogenic | CPT I | <5 | Dehydration, Diarrhea, Hypoglycemia, Seizure | 11441142 | Exon 11 | No |
| CPT1A_0050 | c.1163+5G>A | Intronic | CPT1A | SNV | Splice region | Uncertain Significance | CPT I | <5 | "Decreased body weight, Developmental delay, High procalcitonin levels, Jaundice, Prolonged low-grade fever, Pulmonary effusion, Pulmonary/respiratory, Significant leukocytosis, Urine discoloration" | 30271085 | Intron 10 | Yes |
| CPT1A_0051 | c.1163+4C>T | Intronic | CPT1A | SNV | Splice region | Uncertain Significance | CPT I | <5 | Intron 10 | Yes | ||
| CPT1A_0052 | c.1163+1G>A | Intronic | CPT1A | SNV | Splice donor | Pathogenic | CPT I | <5 | "Abnormal renal morphology, Abnormality of metabolism/homeostasis, Craniosynostosis, Developmental delay, Diarrhea, Hyperbilirubinemia, Hypoglycemia, Hypotonia, Icteric sclera, Jaundice, Liver abnormality, Mild retrognathia, Noroviral enteritis, Renal tubular acidosis, Respiratory tract infection, Scaphocephaly, Thickened gallbladder, Vomiting" | 27066452, 28748224 | Intron 10 | Yes |
| CPT1A_0053 | c.1131G>C | p.Glu377Asp | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 34869124, 35360862 | Exon 10 | No | |
| CPT1A_0103 | c.1112C>T | p.Ser371Leu | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Liver abnormality | Exon 10 | Yes | |
| CPT1A_0054 | c.1079A>G | p.Glu360Gly | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Hypoglycemia, Reye syndrome-like episodes | 12111367 | Exon 10 | Yes |
| CPT1A_0055 | c.1069C>T | p.Arg357Trp | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Abnormality of metabolism/homeostasis, Coma, Flulike illness, Liver abnormality | 11441142, 3211616 | Exon 10 | Yes |
| CPT1A_0056 | c.1065G>A | p.Lys355Lys | CPT1A | SNV | Silent | Uncertain Significance | CPT I | <5 | 36246604 | Exon 10 | Yes | |
| CPT1A_0057 | c.1027T>G | p.Phe343Val | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Hepatic encephalopathy, Hypoglycemia | 15110323 | Exon 10 | Yes |
| CPT1A_0058 | c.1015C>T | p.Arg339* | CPT1A | SNV | Nonsense | Pathogenic | CPT I | <5 | 29519241 | Exon 10 | Yes | |
| CPT1A_0059 | c.1006G>A | p.Val336Met | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Hypoglycemia, Reyes syndrome | 28466427 | Exon 10 | No |
| CPT1A_0060 | c.979C>T | p.His327Tyr | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 35360862 | Exon 10 | No | |
| CPT1A_0061 | c.968-3C>G | Intronic | CPT1A | SNV | Splice region | Uncertain Significance | CPT I | <5 | 31319225 | Intron 9 | Yes | |
| CPT1A_0062 | c.968-11G>A | Intronic | CPT1A | SNV | Intronic | Uncertain Significance | CPT I | <5 | Acute severe pancreatitis, Fever, Hemolysis, Jaundice, Liver abnormality, Renal tubular acidosis | 31234250 | Intron 9 | Yes |
| CPT1A_0063 | c.956G>T | p.Gly319Val | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 35360862 | Exon 9 | No | |
| CPT1A_0064 | c.948del | p.Ile317Serfs*12 | CPT1A | Deletion | Frameshift | Pathogenic | CPT I | <5 | Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Hypoglycemia, Hypotonic, Liver abnormality, Peripheral oedema | 14517221, 9048718 | Exon 9 | Yes |
| CPT1A_0065 | c.947G>A | p.Arg316Gln | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Developmental delay, Hemolytic anemia, Lethargy, Liver abnormality, Rhabdomyolysis, Vomiting | 23969540, 29519241 | Exon 9 | No |
| CPT1A_0066 | c.946C>G | p.Arg316Gly | CPT1A | SNV | Missense | Uncertain Significance | CPT I | 5-10 | 15110323 | Exon 9 | Yes | |
| CPT1A_0067 | c.941C>T | p.Thr314Ile | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | "Abnormal renal morphology, Abnormality of metabolism/homeostasis, Dehydration, Hypoglycemia, Liver abnormality, Obtundation, Respiratory tract infection" | 15669684 | Exon 9 | Yes |
| CPT1A_0068 | c.929G>A | p.Arg310Gln | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 9 | Yes | ||
| CPT1A_0069 | c.912C>G | p.Cys304Trp | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Dehydration, Diarrhea, Liver abnormality, Vomiting | 11441142 | Exon 9 | No |
| CPT1A_0070 | c.884G>A | p.Arg295His | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 9 | Yes | ||
| CPT1A_0071 | c.837_838insT | p.Leu280Serfs*34 | CPT1A | Insertion | Frameshift | Pathogenic | CPT I | <5 | Developmental delay, Hemolytic anemia, Lethargy, Liver abnormality, Rhabdomyolysis, Vomiting | 23969540, 29519241 | Exon 8 | No |
| CPT1A_0072 | c.823G>A | p.Ala275Thr | CPT1A | SNV | Missense | Conflict | CPT I | 5-10 | "Abnormal renal morphology, Abnormal truncal coordination, Abnormality of metabolism/homeostasis, Aminoaciduria, Ataxia, Athetoid movement, Autism/behavior, Cerebral atrophy, Decreased body weight, Dehydration, Developmental delay, Diarrhea, Dystonia, Gerd, Hemihypertrophy, Hypoglycemia, Increased number of mitochondria with abnormal cristae, Klebsiella sepsis, Liver abnormality, Microcephaly, Obtundation, Petechiae, Phosphaturia, Pulmonary/respiratory, Respiratory tract infection, Seizure, Unresponsiveness, Vomiting" | 11441142, 12189492, 15669684, 22494076, 2768784 | Exon 8 | Yes |
| CPT1A_0073 | c.748G>T | p.Val250Leu | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 29519241 | Exon 7 | No | |
| CPT1A_0074 | c.740C>T | p.Pro247Leu | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 35360862 | Exon 7 | Yes | |
| CPT1A_0075 | c.734G>A | p.Arg245Gln | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 30904546, 34869124 | Exon 7 | No | |
| CPT1A_0076 | c.733C>T | p.Arg245* | CPT1A | SNV | Nonsense | Pathogenic | CPT I | <5 | Arrhythmia, Hyperammonemia, Hypoglycemia, Reye syndrome-like episodes | 28468868 | Exon 7 | Yes |
| CPT1A_0077 | c.693+1G>A | Intronic | CPT1A | SNV | Splice donor | Likely Pathogenic | CPT I | <5 | 30887117 | Intron 6 | Yes | |
| CPT1A_0078 | c.627del | p.Phe209Leufs*13 | CPT1A | Deletion | Frameshift | Pathogenic | CPT I | <5 | Hypoglycemia, Reyes syndrome | 28466427 | Exon 6 | No |
| CPT1A_0079 | c.619C>T | p.Gln207* | CPT1A | SNV | Nonsense | Pathogenic | CPT I | <5 | 33123633 | Exon 6 | Yes | |
| CPT1A_0080 | c.601C>T | p.Arg201Trp | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 6 | Yes | ||
| CPT1A_0081 | c.577del | p.Met194* | CPT1A | Deletion | Frameshift | Pathogenic | CPT I | <5 | 35360862 | Exon 6 | No | |
| CPT1A_0082 | c.526G>T | p.Val176Phe | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Cough, Diarrhea, Fever, Gastrointestinal-other, Hypoglycemia, Jaundice, Liver abnormality, Muscle weakness, Pulmonary/respiratory, Vomiting | 23430491 | Exon 5 | No |
| CPT1A_0083 | c.497G>T | p.Ser166Ile | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 23700290 | Exon 5 | No | |
| CPT1A_0084 | c.478C>T | p.Arg160* | CPT1A | SNV | Nonsense | Pathogenic | CPT I | <5 | Encephalopathy, Hepatic encephalopathy, Hypoglycemia, Liver abnormality, Vomiting | 15110323, 16146704 | Exon 5 | Yes |
| CPT1A_0104 | c.454-6C>G | Intronic | CPT1A | SNV | Splice region | Uncertain Significance | CPT I | <5 | Intron 4 | No | ||
| CPT1A_0085 | c.434G>A | p.Arg145His | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 4 | Yes | ||
| CPT1A_0086 | c.367C>T | p.Arg123Cys | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | Hypoglycemia, Otitis media, Seizure, Toroviruspositive diarrhea | 11441142 | Exon 4 | Yes |
| CPT1A_0087 | c.319G>A | p.Gly107Ser | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 4 | Yes | ||
| CPT1A_0105 | c.304A>C | p.Lys102Gln | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Liver abnormality, Myopathy, Other, Peripheral neuropathy | Exon 4 | Yes | |
| CPT1A_0088 | c.298C>T | p.Gln100* | CPT1A | SNV | Nonsense | Pathogenic | CPT I | <5 | Hypoglycemia | 12189492 | Exon 4 | Yes |
| CPT1A_0089 | c.281+1G>A | Intronic | CPT1A | SNV | Splice donor | Pathogenic | CPT I | <5 | 35360862 | Intron 3 | Yes | |
| CPT1A_0090 | c.272T>C | p.Leu91Pro | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | <5 | 23700290, 34869124 | Exon 3 | No | |
| CPT1A_0106 | c.223G>A | p.Ala75Thr | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | Exon 3 | Yes | ||
| CPT1A_0091 | c.205G>A | p.Val69Met | CPT1A | SNV | Missense | Uncertain Significance | CPT I | <5 | 35360862 | Exon 3 | No | |
| CPT1A_0092 | c.167C>T | p.Pro56Leu | CPT1A | SNV | Missense | Likely Pathogenic | CPT I | 5-10 | Cardiac-other, Diarrhea, Fever, Hypotonia, Lethargy | 23430868 | Exon 3 | Yes |
| CPT1A_0093 | c.100T>C | p.Ser34Pro | CPT1A | SNV | Missense | Uncertain Significance | CPT I | 30+ | 35822099 | Exon 2 | Yes | |
| CPT1A_0094 | c.96T>G | p.Tyr32* | CPT1A | SNV | Nonsense | Pathogenic | CPT I | <5 | Hypoglycemia, Reye syndrome-like episodes | 12111367 | Exon 2 | Yes |
- Notes:
- Click the PMID number to go to the corresponding publication.
- All variants are referencing NM_001876.4 and there is no change between these versions with respect to the coding sequence.
- Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.
- Click the Present in ClinVar link to go to the corresponding ClinVar VariationID.
- Definition of acronyms:
- "*": Referenced a stop codon insertion when listed under amino acid change.
- ACMG: American College of Medical Genetics and Genomics
- CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
- SNV: Single DNA nucleotide variant
- del: Deletion
- dup: Duplication
- fs: Frameshift
- ins: Insertion
- References:
- Gobin, S. et al., Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Hum Genet. 2002 Aug;111(2):179-89.
- https://www.ncbi.nlm.nih.gov/gene/1374
- https://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT1A&keywords=cpt1a
- Richbourg et al. (2023) Phenotype associations from a comprehensive database of long-chain fatty acid oxidation disorder gene variants (Abstract and poster presentation, American Society of Human Genetics 2023).