UFC1 Chromosome 1
Ubiquitin-fold modifier conjugating enzyme 1
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What This Gene Does
UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]
Associated Conditions (1)
Neurodevelopmental disorder with spasticity and poor growth
Key Variants
RS1553232770
Likely pathogenic
Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth
Health Risk
RS1181612302
Pathogenic
Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth
Health Risk
RS1248346344
Pathogenic
Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553232770 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth |
| RS1181612302 | Health Risk | Pathogenic | Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth |
| RS1248346344 | Health Risk | Pathogenic | Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth |