Variant: rs1554119274 

    present in Gene: CAMK2A
    present in Chromosome: 5
    Position on Chromosome: 150223026
    Alleles of this Variant: G/A

rs1554119274 in CAMK2A gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 PMID 29784083 2018 A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.