PRKACB protein kinase cAMP-activated catalytic subunit beta
Gene info
Synonyms
PKACb
Previous symbol
None
External ID
HGNC: 9381
Entrez Gene: 5567
Ensembl: ENSG00000142875
UCSC: uc001djl.4
OMIM:
176892
UniProtKB:
P22694
Disease info
Disease
None
CHD Phenotype
- Atrioventricular septal defect
- Single atrium
Extra Cardiac Phenotype
Limb anomalies, brachydactyly, postaxial polydactyly, dysmorphic facial, developmental delay of variable severity
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
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
No variant passing our criteria was found for PRKACB.
Selected References
None