DRC1 Chromosome 2
Dynein regulatory complex subunit 1
Upload your DNA to see your personal genotypes for variants in DRC1.
What This Gene Does
This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
Dynein regulatory complex
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000157856
Associated Conditions (5)
Primary ciliary dyskinesia
Inborn genetic diseases
Primary ciliary dyskinesia 21
DRC1-related disorder
Spermatogenic failure 80
Key Variants
RS138917435
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia
Health Risk
RS139106371
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia
Health Risk
RS139352961
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia
Health Risk
RS141347582
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, DRC1-related disorder
Health Risk
RS145400360
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS146049908
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia
Health Risk
RS151184011
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, Primary ciliary dyskinesia
Health Risk
RS188055173
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, DRC1-related disorder
Health Risk
RS200271366
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, Inborn genetic diseases
Health Risk
RS201260214
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, Inborn genetic diseases
Health Risk
RS35094910
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS757114521
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138917435 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS139106371 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS139352961 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS141347582 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, DRC1-related disorder |
| RS145400360 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS146049908 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS151184011 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, Primary ciliary dyskinesia |
| RS188055173 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, DRC1-related disorder |
| RS200271366 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, Inborn genetic diseases |
| RS201260214 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, Inborn genetic diseases |
| RS35094910 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS757114521 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS774466512 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS146412095 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, Primary ciliary dyskinesia |
| RS2465381819 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2465399337 | Health Risk | Likely pathogenic | Spermatogenic failure 80, Spermatogenic failure 80 |
| RS2465419984 | Health Risk | Likely pathogenic | Spermatogenic failure 80, Spermatogenic failure 80 |
| RS745800344 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS748345425 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1663226917 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1663384249 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1663691728 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1663812465 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2148003690 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2465381898 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS371220148 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS375961396 | Health Risk | Pathogenic | Spermatogenic failure 80, Spermatogenic failure 80 |
| RS587776997 | Health Risk | Pathogenic | Primary ciliary dyskinesia 21, Primary ciliary dyskinesia 21 |
| RS747358703 | Health Risk | Pathogenic | Primary ciliary dyskinesia, DRC1-related disorder, Primary ciliary dyskinesia |
| RS772974990 | Health Risk | Pathogenic | Primary ciliary dyskinesia 21, Primary ciliary dyskinesia, Primary ciliary dyskinesia 21 |
| RS927408361 | Health Risk | Pathogenic | Spermatogenic failure 80, Primary ciliary dyskinesia, Spermatogenic failure 80 |
| RS142371860 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 21, Primary ciliary dyskinesia, DRC1-related disorder |
| RS1435637520 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 21, Primary ciliary dyskinesia, Primary ciliary dyskinesia 21 |
| RS750136163 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 21, Primary ciliary dyskinesia |