Variant: rs765443042 

    present in Gene: RAB23
    present in Chromosome: 6
    Position on Chromosome: 57210299
    Alleles of this Variant: G/A

rs765443042 in RAB23 gene and CARPENTER SYNDROME 1 PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

PMID 23599695 2013 A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.