Variant: rs758723288 

    present in Gene: ECHS1
    present in Chromosome: 10
    Position on Chromosome: 133370686
    Alleles of this Variant: G/A

rs758723288 in ECHS1 gene and Global developmental delay PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs758723288 in ECHS1 gene and MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs758723288 in ECHS1 gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs758723288 in ECHS1 gene and Sensorineural Hearing Loss (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.