Variant: rs763410987 

    present in Gene: CAD
    present in Chromosome: 2
    Position on Chromosome: 27242098
    Alleles of this Variant: G/A

rs763410987 in CAD gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 PMID 28087732 2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

PMID 25678555 2015 Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.