Variant: rs1569285562 

    present in Gene: KDM5C
    present in Chromosome: X
    Position on Chromosome: 53224889
    Alleles of this Variant: T/C

rs1569285562 in KDM5C gene and Spastic Paraplegia PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

PMID 22326837 2012 A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.