ARID1A AT-rich interaction domain 1A

Gene info

Synonyms

None

Previous symbol

C1orf4|SMARCF1

External ID

HGNC: 11110
Entrez Gene: 8289
Ensembl: ENSG00000117713
UCSC: uc001bmv.2
OMIM: 603024
UniProtKB: O14497

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Aortic stenosis
  • Coarctation of the aorta

Extra Cardiac Phenotype

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1935147

Variant info

Clinvar

ARID1A

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Kosho, T., & Okamoto, N. (2014). Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166(3), 262–275. Portico. https://doi.org/10.1002/ajmg.c.31407 DOI:10.1002/ajmg.c.31407 PMID:25168959