rs752745048
This variant is located in the ADAT3 gene.
▶ClinVar annotation
About ADAT3
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]
View all ADAT3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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