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SNP information rs2229291

RS2229291

Normal allele: TT

Carnitine palmitoyltransferase polymorphism is associated with multiple syndromes of acute encephalopathy in various infectious diseases. Genetic risk factor for common acute encephalopathy.

Polymorphism rs2229291 is related to topics like this:

CPT2 disease

A condition affecting the oxidation of long-chain fatty acids, Carnitine palmitoyltransferase II...

Research and publications:

  9600456   Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

  15811315   Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.

  16996287   Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

  18306170   Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.

  18363739   Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.

  20934285   Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.

  21697855   Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26874509   Carnitine palmitoyl transferase 2 polymorphism may be associated with enterovirus 71 severe infection in a Chinese population.

  27156515   Multiple gene mutations identified in patients infected with influenza A (H7N9) virus.

  30651994   Endogenous genetic risk factor for serious heatstroke: the thermolabile phenotype of carnitine palmitoyltransferase II variant.

  31351739   Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.

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