Variant: rs74315294 

    present in Gene: CPT2
    present in Chromosome: 1
    Position on Chromosome: 53202427
    Alleles of this Variant: C/T

rs74315294 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE PMID 23184072 2012 Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.

PMID 21913903 2012 Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 9600456 1998 Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

PMID 10090476 1999 Novel mutations associated with carnitine palmitoyltransferase II deficiency.

PMID 16996287 2006 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

PMID 15642848 2005 Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.

PMID 8358442 1993 Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

rs74315294 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET PMID 8651281 1996 Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

PMID 7711730 1995 Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

PMID 14605500 2003 Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

PMID 15622536 2005 Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

PMID 11477613 2001 Antenatal presentation of carnitine palmitoyltransferase II deficiency.

PMID 14615409 2003 Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

PMID 15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PMID 1528846 1992 Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

PMID 9600456 1998 Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

PMID 8358442 1993 Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

PMID 9758712 1998 Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

PMID 10090476 1999 Novel mutations associated with carnitine palmitoyltransferase II deficiency.

rs74315294 in CPT2 gene and Carnitine palmitoyl transferase 2 deficiency PMID 9309694 1997 P50H and D553N) appear to be rare, while the S113L mutation was found to be common in a group of European patients with CPT II deficiency.

PMID 8651281 1996 Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

PMID 24602495 2014 Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.

PMID 2762996 1989 [Women, their menopause and their body weight].

PMID 27629963 2017 First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.

PMID 21913903 2012 Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

PMID 2647738 1989 Proteolytic modification of Escherichia coli alkaline phosphatase.

PMID 15642848 2005 Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.

PMID 24398345 2014 Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.

PMID 8786066 1996 We studied an inbred family with three affected cousins with CPT II deficiency and found the S113L mutation to be present in a homozygous state in all three patients.

PMID 20810031 2011 Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

PMID 15776096 2005 Genetic analysis showed that one patient was homozygous and two were heterozygous for S113L, the common mutation in CPT II deficiency.

PMID 8358442 1993 The Ser113Leu mutation is the most frequent cause of CPT II deficiency.

PMID 10090476 1999 Novel mutations associated with carnitine palmitoyltransferase II deficiency.

PMID 17936304 2008 Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.

PMID 12707442 2003 Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients.

PMID 23184072 2012 Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.

PMID 10398215 1999 Our data indicate that the S113L is also the most common mutation in Spanish patients with CPT II deficiency in muscle, and that further pathogenic mutations remain to be identified.

PMID 12673791 2003 Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

rs74315294 in CPT2 gene and Rhabdomyolysis PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.