ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 17111
Entrez Gene: 171019
Ensembl: ENSG00000145808
UCSC: uc003kvb.2
OMIM: 607513
UniProtKB: Q8TE59

Disease info

Disease

None

CHD Phenotype

  • Heart valve disease
  • Atrial septal defect
  • Left ventricle outflow tract obstruction
  • Patent foramen ovale
  • Right ventricular hypertrophy

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD

MGI ID

2442875

Variant info

Clinvar

ADAMTS19

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

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Selected References

None