UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative)

Gene info

Synonyms

None

Previous symbol

C14orf130

External ID

HGNC: 20344
Entrez Gene: 55148
Ensembl: ENSG00000012963
UCSC: uc001ybm.4
OMIM: 613816
UniProtKB: Q8N806

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Patent foramen ovale

Extra Cardiac Phenotype

Intellectual disability, epilepsy, hypothyroidism, dysmorphic features

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

1913872

Variant info

Clinvar

UBR7

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 UBR7.

Selected References

None