GATD3
glutamine amidotransferase class 1 domain containing 3
Summary
This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150960051 | 21:45,553,645 | C/G | — | likely benign |
| rs140673738 | 21:45,554,021 | T/G | — | uncertain significance |
| rs2071135 | 21:45,556,186 | A/T | — | — |
| rs61737073 | 21:45,557,143 | C/T | — | benign |
| rs186395824 | 21:45,559,114 | T/G | intron variant | — |
| rs528111636 | 21:45,560,586 | C/T | — | — |
| rs752956051 | 21:45,563,204 | C/G | — | uncertain significance |
| rs148646039 | 21:45,563,206 | A/G | — | uncertain significance |
| rs144882095 | 21:45,564,748 | T/G | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.