ARID1A AT-rich interaction domain 1A

Gene info

Synonyms

B120, P270, C10rf4, BAF250, BAF250a

Previous symbol

C1orf4, SMARCF1

External ID

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

Disease info

CHD Phenotype

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

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice with a homozygous single point mutation (at pos. c.3203, p.V1068G) have CHD. Two different conditional transgenic mice have CHD

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

Download annotation file for ARID1A: BED file

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Selected References

  1. Kosho, T., & Okamoto, N. (2014). Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations inSMARCB1,SMARCA4,SMARCE1, andARID1A. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166(3), 262–275. DOI:10.1002/ajmg.c.31407 PMID:25168959