RSPH9 Chromosome 6
Radial spoke head component 9
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What This Gene Does
This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Axonemal radial spoke subunits
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000172426
Associated Conditions (3)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 12
RSPH9-related disorder
Key Variants
RS1182940646
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 12, Primary ciliary dyskinesia
Health Risk
RS201032669
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, RSPH9-related disorder, Primary ciliary dyskinesia 12
Health Risk
RS2295947
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 12, Primary ciliary dyskinesia
Health Risk
RS2532698369
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS374043705
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS551113626
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 12, Primary ciliary dyskinesia, Primary ciliary dyskinesia 12
Health Risk
RS770913202
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 12, Primary ciliary dyskinesia, Primary ciliary dyskinesia 12
Health Risk
RS79412180
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 12, Primary ciliary dyskinesia
Health Risk
RS1054247330
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1771335561
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS2127891310
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS762292335
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1182940646 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 12, Primary ciliary dyskinesia |
| RS201032669 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, RSPH9-related disorder, Primary ciliary dyskinesia 12 |
| RS2295947 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 12, Primary ciliary dyskinesia |
| RS2532698369 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS374043705 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS551113626 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 12, Primary ciliary dyskinesia, Primary ciliary dyskinesia 12 |
| RS770913202 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 12, Primary ciliary dyskinesia, Primary ciliary dyskinesia 12 |
| RS79412180 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 12, Primary ciliary dyskinesia |
| RS1054247330 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1771335561 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2127891310 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS762292335 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS775136764 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1057520543 | Health Risk | Pathogenic | — |
| RS1233811324 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1395940101 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1436804091 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1554149875 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1582373132 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2127911266 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS376496894 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS397515488 | Health Risk | Pathogenic | Primary ciliary dyskinesia 12, Primary ciliary dyskinesia 12 |
| RS775745422 | Health Risk | Pathogenic | Primary ciliary dyskinesia, RSPH9-related disorder, Primary ciliary dyskinesia |
| RS397515340 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 12, Primary ciliary dyskinesia, Primary ciliary dyskinesia 12 |