RSPH1 Chromosome 21
Radial spoke head component 1
Upload your DNA to see your personal genotypes for variants in RSPH1.
What This Gene Does
This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
Axonemal radial spoke subunits
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160188
Associated Conditions (8)
Primary ciliary dyskinesia
Inborn genetic diseases
Primary ciliary dyskinesia 24
RSPH1-related disorder
Congenital portosystemic shunt
Kartagener syndrome
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Key Variants
RS139390401
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia
Health Risk
RS150629342
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 24, Inborn genetic diseases
Health Risk
RS200382776
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 24, Primary ciliary dyskinesia
Health Risk
RS2054042523
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 24, Primary ciliary dyskinesia
Health Risk
RS543602231
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Congenital portosystemic shunt, Primary ciliary dyskinesia
Health Risk
RS571130499
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1037411448
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS146298259
Likely pathogenic
Primary ciliary dyskinesia 24, Primary ciliary dyskinesia 24
Health Risk
RS2517340869
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS587777059
Likely pathogenic
Primary ciliary dyskinesia 24, Kartagener syndrome, Primary ciliary dyskinesia 24
Health Risk
RS1060501861
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1064792947
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139390401 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS150629342 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 24, Inborn genetic diseases |
| RS200382776 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 24, Primary ciliary dyskinesia |
| RS2054042523 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 24, Primary ciliary dyskinesia |
| RS543602231 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Congenital portosystemic shunt, Primary ciliary dyskinesia |
| RS571130499 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1037411448 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS146298259 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 24, Primary ciliary dyskinesia 24 |
| RS2517340869 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS587777059 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 24, Kartagener syndrome, Primary ciliary dyskinesia 24 |
| RS1060501861 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1064792947 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1334138475 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS138320978 | Health Risk | Pathogenic | Primary ciliary dyskinesia 24, Kartagener syndrome, Primary ciliary dyskinesia |
| RS144037391 | Health Risk | Pathogenic | Primary ciliary dyskinesia 24, Primary ciliary dyskinesia 24 |
| RS151107532 | Health Risk | Pathogenic | Primary ciliary dyskinesia 24, Kartagener syndrome, Primary ciliary dyskinesia |
| RS1555875358 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2054181752 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2517329452 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2517333595 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS529633380 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS556286752 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS566463967 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS587777058 | Health Risk | Pathogenic | Primary ciliary dyskinesia 24, Primary ciliary dyskinesia, Primary ciliary dyskinesia 24 |
| RS767700639 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS587777635 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 24, Primary ciliary dyskinesia, RSPH1-related disorder |
| RS727503394 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 24, Primary ciliary dyskinesia |
| RS753105954 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 24, Primary ciliary dyskinesia |