Variant: rs141970897 

    present in Gene: CRAT
    present in Chromosome: 9
    Position on Chromosome: 129104269
    Alleles of this Variant: T/C

rs141970897 in CRAT gene and Carnitine Acetyltransferase Deficiency PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs141970897 in CRAT gene and Mitochondrial respiratory chain defects PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs141970897 in CRAT gene and Muscle hypotonia PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs141970897 in CRAT gene and Ophthalmoplegia PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs141970897 in CRAT gene and Pediatric failure to thrive PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs141970897 in CRAT gene and Respiratory Insufficiency PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs141970897 in CRAT gene and Seizures PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.