Variant: rs1057519368 

    present in Gene: PTEN
    present in Chromosome: 10
    Position on Chromosome: 87957958
    Alleles of this Variant: T/A;C;G

rs1057519368 in PTEN gene and MACROCEPHALY/AUTISM SYNDROME PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

rs1057519368 in PTEN gene and PTEN Hamartoma Tumor Syndrome PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

PMID 27535533 2016 Analysis of protein-coding genetic variation in 60,706 humans.