Variant: rs1462319941 

    present in Gene: WASHC5
    present in Chromosome: 8
    Position on Chromosome: 125081668
    Alleles of this Variant: G/A

rs1462319941 in WASHC5 gene and 3C syndrome PMID 24065355 2013 A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

rs1462319941 in WASHC5 gene and Spastic paraplegia 8, autosomal dominant PMID 24065355 2013 A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.