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.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for PRKACB.

Selected References

None