CDK13 Chromosome 7
Cyclin dependent kinase 13
Upload your DNA to see your personal genotypes for variants in CDK13.
What This Gene Does
The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Cyclin dependent kinases
Locus Type
gene with protein product
Location
7p14.1
Ensembl
ENSG00000065883
Associated Conditions (12)
Congenital heart defects
dysmorphic facial features
and intellectual developmental disorder
Inborn genetic diseases
CDK13-related disorder
Global developmental delay
Neurodevelopmental abnormality
Neurodevelopmental disorder
Neurodevelopmental delay
Autism spectrum disorder
Syndromic intellectual disability
Marfanoid habitus and intellectual disability
Key Variants
RS1029840854
Conflicting classifications of pathogenicity
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Health Risk
RS1175530571
Conflicting classifications of pathogenicity
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Health Risk
RS1185235703
Conflicting classifications of pathogenicity
Inborn genetic diseases, CDK13-related disorder, Inborn genetic diseases
Health Risk
RS1191985078
Conflicting classifications of pathogenicity
Health Risk
RS1216683440
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1258245330
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1279892568
Conflicting classifications of pathogenicity
Health Risk
RS1295790880
Conflicting classifications of pathogenicity
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Health Risk
RS1331110870
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1362374699
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1391813384
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139418651
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1562767666 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1584035995 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
| RS2150517060 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
| RS878853160 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |