Variant: rs369088781 

    present in Gene: MTOR
    present in Chromosome: 1
    Position on Chromosome: 11130648
    Alleles of this Variant: C/A;T

rs369088781 in MTOR gene and SMITH-KINGSMORE SYNDROME PMID 27830187 2016 Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

PMID 25851998 2015 A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

PMID 26542245 2015 Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.