Variant: rs1057519632 

    present in Gene: CDK13
    present in Chromosome: 7
    Position on Chromosome: 39999467
    Alleles of this Variant: G/A

rs1057519632 in CDK13 gene and Muscle hypotonia PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 24999027 2014 Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 29222009 2018 Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

PMID 29021403 2018 Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.