Variant: rs1057517955 

    present in Gene: KDM5C;MIR6894
    present in Chromosome: X
    Position on Chromosome: 53199128
    Alleles of this Variant: C/T

rs1057517955 in KDM5C;MIR6894 gene and Dysmorphic features PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).

PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

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

PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.