Variant: rs864309721 

    present in Gene: CDC42
    present in Chromosome: 1
    Position on Chromosome: 22086451
    Alleles of this Variant: A/G

rs864309721 in CDC42 gene and TAKENOUCHI-KOSAKI SYNDROME PMID 26708094 2016 Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

PMID 26386261 2015 Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.