YRDC Chromosome 1
YrdC N6-threonylcarbamoyltransferase domain containing
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What This Gene Does
Enables L-threonylcarbamoyladenylate synthase. Involved in tRNA threonylcarbamoyladenosine modification. Acts upstream of or within negative regulation of transport. Is active in mitochondrion. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (8)
Sarcoma
Hepatocellular carcinoma
Cervical cancer
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Galloway-Mowat syndrome 10
Key Variants
RS199640385
Conflicting classifications of pathogenicity
Health Risk
RS61778075
Conflicting classifications of pathogenicity
Sarcoma, Hepatocellular carcinoma, Cervical cancer
Health Risk
RS1646718218
Pathogenic
Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10
Health Risk
RS1646752498
Pathogenic
Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10
Health Risk
RS2148390396
Pathogenic
Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10
Health Risk
RS747256043
Pathogenic
Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199640385 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61778075 | Health Risk | Conflicting classifications of pathogenicity | Sarcoma, Hepatocellular carcinoma, Cervical cancer |
| RS1646718218 | Health Risk | Pathogenic | Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10 |
| RS1646752498 | Health Risk | Pathogenic | Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10 |
| RS2148390396 | Health Risk | Pathogenic | Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10 |
| RS747256043 | Health Risk | Pathogenic | Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10 |