SHQ1 Chromosome 3
SHQ1, H/ACA ribonucleoprotein assembly factor
Upload your DNA to see your personal genotypes for variants in SHQ1.
What This Gene Does
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
Associated Conditions (4)
Dystonia 35
childhood-onset
Neurodevelopmental disorder with dystonia and seizures
SHQ1-related disorder
Key Variants
RS143636968
Conflicting classifications of pathogenicity
Dystonia 35, childhood-onset, Dystonia 35
Health Risk
RS1707346649
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with dystonia and seizures, Neurodevelopmental disorder with dystonia and seizures
Health Risk
RS571329853
Conflicting classifications of pathogenicity
Dystonia 35, childhood-onset, Neurodevelopmental disorder with dystonia and seizures
Health Risk
RS759531964
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with dystonia and seizures, Neurodevelopmental disorder with dystonia and seizures
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143636968 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 35, childhood-onset, Dystonia 35 |
| RS1707346649 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with dystonia and seizures, Neurodevelopmental disorder with dystonia and seizures |
| RS571329853 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 35, childhood-onset, Neurodevelopmental disorder with dystonia and seizures |
| RS759531964 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with dystonia and seizures, Neurodevelopmental disorder with dystonia and seizures |