Variant: rs397514605 

    present in Gene: AKT3
    present in Chromosome: 1
    Position on Chromosome: 243613681
    Alleles of this Variant: T/C

rs397514605 in AKT3 gene and MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 23745724 2014 AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

rs397514605 in AKT3 gene and Megalencephaly cutis marmorata telangiectatica congenita PMID 25416470 2015 Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

PMID 25523067 2015 Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

PMID 23745724 2014 AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.