DDX59 Chromosome 1
DEAD-box helicase 59
Upload your DNA to see your personal genotypes for variants in DDX59.
What This Gene Does
Predicted to enable RNA helicase activity and mRNA binding activity. Predicted to be located in cytoplasm; membrane; and nucleus. Implicated in orofaciodigital syndrome V. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers HIT-type|DEAD-box helicases"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000118197
Associated Conditions (3)
Inborn genetic diseases
DDX59-related disorder
Orofaciodigital syndrome V
Key Variants
RS114787000
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143810968
Conflicting classifications of pathogenicity
Health Risk
RS145102433
Conflicting classifications of pathogenicity
DDX59-related disorder, Inborn genetic diseases, DDX59-related disorder
Health Risk
RS146518838
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1571603072
Likely pathogenic
Orofaciodigital syndrome V, Orofaciodigital syndrome V
Health Risk
RS2528143202
Likely pathogenic
Health Risk
RS546799731
Likely pathogenic
Orofaciodigital syndrome V, Orofaciodigital syndrome V
Health Risk
RS1403300887
Pathogenic
Health Risk
RS769198531
Pathogenic
Orofaciodigital syndrome V, Orofaciodigital syndrome V
Health Risk
RS773114666
Pathogenic
Orofaciodigital syndrome V, Orofaciodigital syndrome V
Health Risk
RS774120769
Pathogenic
Health Risk
RS587777067
Pathogenic/Likely pathogenic
Orofaciodigital syndrome V, Orofaciodigital syndrome V
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114787000 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143810968 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145102433 | Health Risk | Conflicting classifications of pathogenicity | DDX59-related disorder, Inborn genetic diseases, DDX59-related disorder |
| RS146518838 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1571603072 | Health Risk | Likely pathogenic | Orofaciodigital syndrome V, Orofaciodigital syndrome V |
| RS2528143202 | Health Risk | Likely pathogenic | — |
| RS546799731 | Health Risk | Likely pathogenic | Orofaciodigital syndrome V, Orofaciodigital syndrome V |
| RS1403300887 | Health Risk | Pathogenic | — |
| RS769198531 | Health Risk | Pathogenic | Orofaciodigital syndrome V, Orofaciodigital syndrome V |
| RS773114666 | Health Risk | Pathogenic | Orofaciodigital syndrome V, Orofaciodigital syndrome V |
| RS774120769 | Health Risk | Pathogenic | — |
| RS587777067 | Health Risk | Pathogenic/Likely pathogenic | Orofaciodigital syndrome V, Orofaciodigital syndrome V |