Carnitine Palmitoyltransferase I (CPT I) Deficiency

TITLE

CPT1A

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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.

Gene Structure

Variant_IDVariantAmino_Acid_ChangeProtein DomainDisplay ACMG CallACMG_Call_Last_Revised_DateVariant_TypeEffect_Typegene_symbolTimes_Observed_RangePMIDArticle_CountPhenotypeDisease subtypeVariant_StartLocation
CPT1A_0001c.2246G>Ap.Arg749HisCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-534374989, 353608622Developmental delayCPT12246Exon 19
CPT1A_0002c.2238T>Gp.Asp746GluCyt (Cytoplasmic)Uncertain Significance05/16/2023SNVMissenseCPT1A<30CPT12238Exon 19
CPT1A_0003c.2215A>Gp.Lys739GluCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3331236331CPT12215Exon 18
CPT1A_0004c.2201T>Cp.Phe734SerCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3342337431CPT12201Exon 18
CPT1A_0005c.2198A>Gp.Asn733SerCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3340233471CPT12198Exon 18
CPT1A_0006c.2156G>Ap.Gly719AspCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3193455251CPT12156Exon 18
CPT1A_0007c.2142G>Ap.Pro714=Cyt (Cytoplasmic)Uncertain Significance03/01/2023SNVSilentCPT1A30+0CPT12142Exon 17
CPT1A_0008c.2142G>ASilentNot SpecifiedUncertain Significance05/16/2023SNVSilentCPT1A<30CPT12142Exon 17
CPT1A_0009c.2136delp.Phe712Leufs*43Cyt (Cytoplasmic)Likely Pathogenic03/01/2023DeletionFrameshiftCPT1A<3308871171CPT12136Exon 17
CPT1A_0010c.2129G>Ap.Gly710GluCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A11-2011350182, 11350183, 14033883Abnormal liver morphology, Decreased liver function, Deep vein thrombosis, Dehydration, Developmental delay, Diarrhea, Encephalopathy, Gastrointestinal-other, Hypoketotic hypoglycemia, Lethargy, Limp, Pancreatitis, Pneumococcal septicemia, Residual left hemiparesis, Respiratory tract infection, Rhabdomyolysis, Seizure, Steatosis, VomitingCPT12129Exon 17
CPT1A_0011c.2126G>Ap.Gly709GluCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<314517221, 90487182Abnormal liver morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Hypoglycemia, Hypotonic, Peripheral oedemaCPT12126Exon 17
CPT1A_0012c.2125G>Ap.Gly709ArgCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-535281663, 353608622CPT12125Exon 17
CPT1A_0013c.2122A>Cp.Ser708ArgCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A6-10358220991Abnormality of metabolism/homeostasis, Coagulopathy, Decreased liver function, Encephalopathy, Global cerebral injury, Hypoketotic hypoglycemia, Mild cerebral atrophy, Renal insufficiency/failureCPT12122Exon 17
CPT1A_0014c.2028+3_2028+6delIntronicNot SpecifiedLikely Pathogenic03/01/2023DeletionSplice regionCPT1A<3121113671CPT12028Intron 16
CPT1A_0015c.1964G>Ap.Arg655HisCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3312342501Abnormal liver morphology, Acute severe pancreatitis, Fever, Hemolysis, Jaundice, Renal tubular acidosisCPT11964Exon 16
CPT1A_0016c.1948G>Ap.Gly650SerCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3352816631CPT11948Exon 16
CPT1A_0017c.1910C>Ap.Ser637TyrCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-5353608621CPT11910Exon 16
CPT1A_0018c.1910C>Tp.Ser637PheCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3362466041CPT11910Exon 16
CPT1A_0019c.1907C>Tp.Ala636ValCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3306176511CPT11907Exon 16
CPT1A_0020c.1889T>Gp.Leu630ArgCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3347287071CPT11889Exon 16
CPT1A_0021c.1850G>Ap.Arg617GlnCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A30+0CPT11850Exon 15
CPT1A_0022c.1817G>Ap.Arg606HisCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3353608621CPT11817Exon 15
CPT1A_0023c.1783C>Tp.Arg595TrpCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3234309321Abnormal liver morphology, Anorexia, Cerebral hyperexcitability, Coma, Dehydration, Developmental delay, Diarrhea, Gastrointestinal-other, Hypoglycemia, Seizure, Speaking difficulties, VomitingCPT11783Exon 15
CPT1A_0024c.1762_1766dupp.Tyr589*(R)-Carnitine Binding SitePathogenic03/01/2023InsertionFrameshiftCPT1A<3234304911Abnormal liver morphology, Cholestasis, Cough, Diarrhea, Fever, Gastrointestinal-other, Hypoglycemia, Jaundice, Muscle weakness, Pulmonary/respiratory, VomitingCPT11762Exon 15
CPT1A_0025c.1737C>Ap.Tyr579*Cyt (Cytoplasmic)Pathogenic03/01/2023SNVNonsenseCPT1A<3161467041Apathy, Encephalopathy, Lethargy, Otitis media, VomitingCPT11737Exon 14
CPT1A_0026c.1683delp.Lys561Asnfs*33CoA Binding SiteLikely Pathogenic03/01/2023DeletionFrameshiftCPT1A<3287714361CPT11683Exon 14
CPT1A_0027c.1600delp.Leu534*Cyt (Cytoplasmic)Pathogenic03/01/2023DeletionFrameshiftCPT1A<3161467041Encephalopathy, HypoglycemiaCPT11600Exon 14
CPT1A_0028c.1518C>Tp.Gly506=Cyt (Cytoplasmic)Uncertain Significance03/01/2023SNVSilentCPT1A30+0CPT11518Exon 13
CPT1A_0029c.1497G>ASilentNot SpecifiedUncertain Significance05/16/2023SNVSilentCPT1A<30CPT11497Exon 13
CPT1A_0030c.1493A>Gp.Tyr498CysCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<312189492, 27687842Abnormal liver morphology, Abnormal truncal coordination, Abnormality of metabolism/homeostasis, Aminoaciduria, Cerebral atrophy, Klebsiella sepsis, Petechiae, Phosphaturia, Pulmonary/respiratory, Seizure, UnresponsivenessCPT11493Exon 13
CPT1A_0031c.1493A>Cp.Tyr498SerCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<317060594, 219625992Abnormality of metabolism/homeostasis, Encephalopathy, Hyperlipidemia, Hypoglycemia, Renal tubular acidosisCPT11493Exon 13
CPT1A_0032c.1456_1458+1delIntronicNot SpecifiedPathogenic03/01/2023DeletionSplice donorCPT1A<3306176511Hepatic failure, Hyperammonemia, HypoglycemiaCPT11456Exon 12, Intron 12
CPT1A_0033c.1451T>Cp.Leu484ProCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<311441142, 32116162CPT11451Exon 12
CPT1A_0034c.1436C>Tp.Pro479LeuCyt (Cytoplasmic)Conflict03/01/2023SNVMissenseCPT1A30+11441142, 19181627, 30887117, 35442417, 361097955CPT11436Exon 12
CPT1A_0035c.1433C>Tp.Ala478ValCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3237002901Recurrent acute pancreatitisCPT11433Exon 12
CPT1A_0036c.1394G>Ap.Gly465GluCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-5327812711Abnormal liver morphology, Autism/behavior, Developmental delay, Hypertelorism, Hypotonia, Macrocephaly, Mild facial dysmorphism, Prominent forehead, Respiratory tract infection, Short philtrumCPT11394Exon 12
CPT1A_0037c.1393G>Tp.Gly465TrpCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-5151103231Encephalopathy, Hypoketotic hypoglycemiaCPT11393Exon 12
CPT1A_0038c.1393G>Ap.Gly465ArgCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3270664521Abnormal liver morphology, Abnormal renal morphology, Abnormality of metabolism/homeostasis, Craniosynostosis, Hyperbilirubinemia, Hypoglycemia, Icteric sclera, Jaundice, Noroviral enteritis, Renal tubular acidosis, Respiratory tract infection, ScaphocephalyCPT11393Exon 12
CPT1A_0039c.1367C>Tp.Ser456LeuCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3237002901Recurrent acute pancreatitisCPT11367Exon 12
CPT1A_0040c.1364A>Cp.Lys455ThrCyt (Cytoplasmic)Pathogenic03/01/2023SNVMissenseCPT1A11-2015970898, 17060594, 219625993Abnormal liver morphology, Abnormality of metabolism/homeostasis, Anemia, Encephalopathy, Hyperammonemia, Hyperlipidemia, Hypoglycemia, Icterus, Lethargy, Loss of consciousness, Mild disturbance of consciousness, Nausea, Renal tubular acidosis, Thrombocytopenia, Transient loss of consciousness, VomitingCPT11364Exon 12
CPT1A_0041c.1361A>Gp.Asp454GlyCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-596910891Abnormal liver morphology, Abnormality of metabolism/homeostasis, Diarrhea, Encephalopathy, Feeding difficulties, Hypoketotic hypoglycemia, Hypotonia, LethargyCPT11361Exon 12
CPT1A_0042c.1339C>Tp.Arg447*Cyt (Cytoplasmic)Pathogenic03/01/2023SNVNonsenseCPT1A<3193455251CPT11339Exon 11
CPT1A_0043c.1336G>Ap.Gly446SerCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-530904546, 34869124, 353608623CPT11336Exon 11
CPT1A_0044c.1328T>Cp.Leu443ProCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-5353608621CPT11328Exon 11
CPT1A_0045c.1318G>Ap.Ala440ThrCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A6-1027295194, 342337432CPT11318Exon 11
CPT1A_0046c.1295C>Tp.Pro432LeuCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3353608621CPT11295Exon 11
CPT1A_0047c.1241C>Tp.Ala414ValCyt (Cytoplasmic)Pathogenic03/01/2023SNVMissenseCPT1A3-512189492, 27295194, 27687843Abnormal liver morphology, Abnormal truncal coordination, Abnormality of metabolism/homeostasis, Aminoaciduria, Cerebral atrophy, Klebsiella sepsis, Petechiae, Phosphaturia, Pulmonary/respiratory, Seizure, UnresponsivenessCPT11241Exon 11
CPT1A_0048c.1199G>Cp.Gly400AlaCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A30+0CPT11199Exon 11
CPT1A_0049c.1184_1186delp.Arg395delCyt (Cytoplasmic)Likely Pathogenic03/01/2023DeletionDeletionCPT1A<3114411421Dehydration, Diarrhea, Hypoglycemia, SeizureCPT11184Exon 11
CPT1A_0050c.1163+5G>AIntronicNot SpecifiedUncertain Significance03/01/2023SNVSplice regionCPT1A<3302710851CPT11163Intron 10
CPT1A_0051c.1163+4C>TIntronicNot SpecifiedUncertain Significance05/16/2023SNVSplice regionCPT1A<30CPT11163Intron 10
CPT1A_0052c.1163+1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorCPT1A3-527066452, 287482242Abnormal liver morphology, Abnormal renal morphology, Abnormality of metabolism/homeostasis, Craniosynostosis, Developmental delay, Diarrhea, Hyperbilirubinemia, Hypoglycemia, Hypotonia, Icteric sclera, Jaundice, Mild retrognathia, Noroviral enteritis, Renal tubular acidosis, Respiratory tract infection, Scaphocephaly, Thickened gallbladder, VomitingCPT11163Intron 10
CPT1A_0053c.1131G>Cp.Glu377AspCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<334869124, 353608622CPT11131Exon 10
CPT1A_0054c.1079A>Gp.Glu360GlyCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3121113671Hypoketotic hypoglycemia, Reye syndrome-like episodesCPT11079Exon 10
CPT1A_0055c.1069C>Tp.Arg357TrpCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-511441142, 32116162Abnormal liver morphology, Abnormality of metabolism/homeostasis, Coma, Flulike illnessCPT11069Exon 10
CPT1A_0056c.1065G>Ap.Lys355LysCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVSilentCPT1A<3362466041CPT11065Exon 10
CPT1A_0057c.1027T>Gp.Phe343ValCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3151103231Encephalopathy, HypoglycemiaCPT11027Exon 10
CPT1A_0058c.1015C>Tp.Arg339*Cyt (Cytoplasmic)Pathogenic03/01/2023SNVNonsenseCPT1A<3295192411CPT11015Exon 10
CPT1A_0059c.1006G>Ap.Val336MetCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3284664271Hypoglycemia, Reyes syndromeCPT11006Exon 10
CPT1A_0060c.979C>Tp.His327TyrCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3353608621CPT1979Exon 10
CPT1A_0061c.968-3C>GIntronicNot SpecifiedUncertain Significance03/01/2023SNVCPT1A<3313192251CPT1968Intron 9
CPT1A_0062c.968-11G>AIntronicNot SpecifiedUncertain Significance03/01/2023SNVIntronicCPT1A<3312342501Abnormal liver morphology, Acute severe pancreatitis, Fever, Hemolysis, Jaundice, Renal tubular acidosisCPT1968Intron 9
CPT1A_0063c.956G>Tp.Gly319ValCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3353608621CPT1956Exon 9
CPT1A_0064c.948delp.Ile317Serfs*12Cyt (Cytoplasmic)Pathogenic03/01/2023DeletionFrameshiftCPT1A<314517221, 90487182Abnormal liver morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Hypoglycemia, Hypotonic, Peripheral oedemaCPT1948Exon 9
CPT1A_0065c.947G>Ap.Arg316GlnCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<323969540, 295192412Abnormal liver morphology, Developmental delay, Hemolytic anemia, Hepatic failure, Lethargy, Rhabdomyolysis, VomitingCPT1947Exon 9
CPT1A_0066c.946C>Gp.Arg316GlyCyt (Cytoplasmic)Uncertain Significance05/16/2023SNVMissenseCPT1A3-5151103231CPT1946Exon 9
CPT1A_0067c.941C>Tp.Thr314IleCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3156696841Abnormal renal morphology, Abnormality of metabolism/homeostasis, Dehydration, Hypoglycemia, Liver dysfunction, Obtundation, Respiratory tract infectionCPT1941Exon 9
CPT1A_0068c.929G>Ap.Arg310GlnCyt (Cytoplasmic)Uncertain Significance05/16/2023SNVMissenseCPT1A<30CPT1929Exon 9
CPT1A_0069c.912C>Gp.Cys304TrpCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3114411421Abnormal liver morphology, Dehydration, Diarrhea, VomitingCPT1912Exon 9
CPT1A_0070c.884G>Ap.Arg295HisCyt (Cytoplasmic)Uncertain Significance05/16/2023SNVMissenseCPT1A<30CPT1884Exon 9
CPT1A_0071c.837_838insTp.Leu280Serfs*34Cyt (Cytoplasmic)Pathogenic03/01/2023InsertionFrameshiftCPT1A<323969540, 295192412Abnormal liver morphology, Developmental delay, Hemolytic anemia, Hepatic failure, Lethargy, Rhabdomyolysis, VomitingCPT1837Exon 8
CPT1A_0072c.823G>Ap.Ala275ThrCyt (Cytoplasmic)Conflict03/01/2023SNVMissenseCPT1A6-1011441142, 12189492, 15669684, 22494076, 27687845Abnormal liver morphology, Abnormal renal morphology, Abnormal truncal coordination, Abnormality of metabolism/homeostasis, Aminoaciduria, Cerebral atrophy, Dehydration, Diarrhea, Hypoglycemia, Klebsiella sepsis, Liver dysfunction, Obtundation, Petechiae, Phosphaturia, Pulmonary/respiratory, Respiratory tract infection, Seizure, Unresponsiveness, VomitingCPT1823Exon 8
CPT1A_0073c.748G>Tp.Val250LeuCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3295192411CPT1748Exon 7
CPT1A_0074c.740C>Tp.Pro247LeuCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-5353608621CPT1740Exon 7
CPT1A_0075c.734G>Ap.Arg245GlnCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<330904546, 348691242CPT1734Exon 7
CPT1A_0076c.733C>Tp.Arg245*Cyt (Cytoplasmic)Pathogenic03/01/2023SNVNonsenseCPT1A<3284688681Arrhythmia, Hyperammonemia, Hypoketotic hypoglycemia, Reye syndrome-like episodesCPT1733Exon 7
CPT1A_0077c.693+1G>AIntronicNot SpecifiedLikely Pathogenic03/01/2023SNVSplice donorCPT1A<3308871171CPT1693Intron 6
CPT1A_0078c.627delp.Phe209Leufs*13Cyt (Cytoplasmic)Pathogenic03/01/2023DeletionFrameshiftCPT1A<3284664271Hypoglycemia, Reyes syndromeCPT1627Exon 6
CPT1A_0079c.619C>Tp.Gln207*Cyt (Cytoplasmic)Pathogenic03/01/2023SNVNonsenseCPT1A<3331236331CPT1619Exon 6
CPT1A_0080c.601C>Tp.Arg201TrpCyt (Cytoplasmic)Uncertain Significance05/16/2023SNVMissenseCPT1A<30CPT1601Exon 6
CPT1A_0081c.577delp.Met194*Cyt (Cytoplasmic)Pathogenic03/01/2023DeletionFrameshiftCPT1A<3353608621CPT1577Exon 6
CPT1A_0082c.526G>Tp.Val176PheCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3234304911Abnormal liver morphology, Cholestasis, Cough, Diarrhea, Fever, Gastrointestinal-other, Hypoglycemia, Jaundice, Muscle weakness, Pulmonary/respiratory, VomitingCPT1526Exon 5
CPT1A_0083c.497G>Tp.Ser166IleCyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A<3237002901CPT1497Exon 5
CPT1A_0084c.478C>Tp.Arg160*Cyt (Cytoplasmic)Pathogenic03/01/2023SNVNonsenseCPT1A3-515110323, 161467042Abnormal liver morphology, Encephalopathy, Hypoglycemia, Hypoketotic hypoglycemia, VomitingCPT1478Exon 5
CPT1A_0085c.434G>Ap.Arg145HisCyt (Cytoplasmic)Uncertain Significance05/16/2023SNVMissenseCPT1A<30CPT1434Exon 4
CPT1A_0086c.367C>Tp.Arg123CysCyt (Cytoplasmic)Likely Pathogenic03/01/2023SNVMissenseCPT1A<3114411421Hypoglycemia, Otitis media, Seizure, Toroviruspositive diarrheaCPT1367Exon 4
CPT1A_0087c.319G>Ap.Gly107SerTM (Transmembrane)Uncertain Significance05/16/2023SNVMissenseCPT1A<30CPT1319Exon 4
CPT1A_0088c.298C>Tp.Gln100*mtIM (Mitochondrial intermembrane)Pathogenic03/01/2023SNVNonsenseCPT1A<3121894921Hypoketotic hypoglycemiaCPT1298Exon 4
CPT1A_0089c.281+1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorCPT1A<3353608621CPT1281Intron 3
CPT1A_0090c.272T>Cp.Leu91PromtIM (Mitochondrial intermembrane)Likely Pathogenic03/01/2023SNVMissenseCPT1A<323700290, 348691242CPT1272Exon 3
CPT1A_0091c.205G>Ap.Val69MetTM ( Transmembrane)Uncertain Significance03/01/2023SNVMissenseCPT1A<3353608621CPT1205Exon 3
CPT1A_0092c.167C>Tp.Pro56LeuTM ( Transmembrane)Likely Pathogenic03/01/2023SNVMissenseCPT1A3-5234308681Cardiac-other, Diarrhea, Fever, Hypotonia, LethargyCPT1167Exon 3
CPT1A_0093c.100T>Cp.Ser34Procyt (Cytoplasmic)Uncertain Significance03/01/2023SNVMissenseCPT1A30+358220991CPT1100Exon 2
CPT1A_0094c.96T>Gp.Tyr32*cyt (Cytoplasmic)Pathogenic03/01/2023SNVNonsenseCPT1A<3121113671Hypoketotic hypoglycemia, Reye syndrome-like episodesCPT196Exon 2
    Notes:
  • * 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.
    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

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