ADAT3 Chromosome 19
Adenosine deaminase tRNA specific 3
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What This Gene Does
This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Adenosine deaminases acting on RNA
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000213638
Associated Conditions (3)
ADAT3-related disorder
Inborn genetic diseases
Intellectual disability-strabismus syndrome
Key Variants
RS139117131
Conflicting classifications of pathogenicity
ADAT3-related disorder, ADAT3-related disorder
Health Risk
RS149646876
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555837861
Conflicting classifications of pathogenicity
Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome
Health Risk
RS200992550
Conflicting classifications of pathogenicity
Inborn genetic diseases, ADAT3-related disorder, Inborn genetic diseases
Health Risk
RS562447196
Conflicting classifications of pathogenicity
Intellectual disability-strabismus syndrome, Inborn genetic diseases, Intellectual disability-strabismus syndrome
Health Risk
RS921199964
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752360082
Likely pathogenic
Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome
Health Risk
RS746859902
Pathogenic
Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139117131 | Health Risk | Conflicting classifications of pathogenicity | ADAT3-related disorder, ADAT3-related disorder |
| RS149646876 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555837861 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome |
| RS200992550 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ADAT3-related disorder, Inborn genetic diseases |
| RS562447196 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-strabismus syndrome, Inborn genetic diseases, Intellectual disability-strabismus syndrome |
| RS921199964 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752360082 | Health Risk | Likely pathogenic | Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome |
| RS746859902 | Health Risk | Pathogenic | Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome |