CTNND1 catenin delta 1
Gene info
Synonyms
None
Previous symbol
CTNND
External ID
HGNC: 2515
Entrez Gene: 1500
Ensembl: ENSG00000198561
UCSC: uc021qjk.2
OMIM:
601045
UniProtKB:
O60716
Disease info
Disease
None
CHD Phenotype
- Ventricular septal defect
- Atrial septal defect
- Tetralogy of fallot
- Coarctation of the aorta
- Pulmonic stenosis
- Patent ductus arteriosus
Extra Cardiac Phenotype
Cleft palate, hypodontia, limb dysmorphologies, neurodevelopmental disorders
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
MGI: No CHD in knockout mice
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
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Selected References
None