CSPP1 Chromosome 8
Centrosome and spindle pole associated protein 1
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What This Gene Does
This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Associated Conditions (13)
Joubert syndrome 21
Inborn genetic diseases
CSPP1-related disorder
Optic atrophy
Sarcoma
Familial cancer of breast
Uterine carcinosarcoma
Malignant tumor of urinary bladder
Uterine corpus endometrial carcinoma
Squamous cell lung carcinoma
Meckel-Gruber syndrome
Uveal melanoma
Joubert syndrome
Key Variants
RS1064797347
Conflicting classifications of pathogenicity
Joubert syndrome 21, Joubert syndrome 21
Health Risk
RS114953032
Conflicting classifications of pathogenicity
Joubert syndrome 21, Inborn genetic diseases, Joubert syndrome 21
Health Risk
RS146127619
Conflicting classifications of pathogenicity
Joubert syndrome 21, Joubert syndrome 21
Health Risk
RS199608505
Conflicting classifications of pathogenicity
Joubert syndrome 21, CSPP1-related disorder, Joubert syndrome 21
Health Risk
RS199831541
Conflicting classifications of pathogenicity
Joubert syndrome 21, Optic atrophy, Joubert syndrome 21
Health Risk
RS199996939
Conflicting classifications of pathogenicity
Joubert syndrome 21, Joubert syndrome 21
Health Risk
RS200158932
Conflicting classifications of pathogenicity
Joubert syndrome 21, CSPP1-related disorder, Sarcoma
Health Risk
RS200546493
Conflicting classifications of pathogenicity
Joubert syndrome 21, Inborn genetic diseases, Familial cancer of breast
Health Risk
RS201629827
Conflicting classifications of pathogenicity
Joubert syndrome 21, CSPP1-related disorder, Joubert syndrome 21
Health Risk
RS371071297
Conflicting classifications of pathogenicity
Joubert syndrome 21, Inborn genetic diseases, Joubert syndrome 21
Health Risk
RS376353407
Conflicting classifications of pathogenicity
Joubert syndrome 21, Inborn genetic diseases, Joubert syndrome 21
Health Risk
RS527372531
Conflicting classifications of pathogenicity
Joubert syndrome 21, Joubert syndrome 21
Health Risk
All Variants (116)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554562278 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1554604482 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1554614893 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1563541637 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1563653231 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1563720581 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1818317027 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1818417633 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1821344202 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1825358020 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1826221738 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS1827098991 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS200881715 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2129543529 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2129554176 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2129559063 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2129560295 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2129575958 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2488230949 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2488286486 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2488462982 | Health Risk | Pathogenic | Joubert syndrome 21, Inborn genetic diseases, Joubert syndrome 21 |
| RS2488603690 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2488787902 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2489679993 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2489688253 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2489718499 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS2489901305 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS375113643 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS537456518 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS587777138 | Health Risk | Pathogenic | Joubert syndrome 21, CSPP1-related disorder, Joubert syndrome 21 |
| RS587777139 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS587777140 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS587777141 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS587777142 | Health Risk | Pathogenic | Joubert syndrome 21, Squamous cell lung carcinoma, Joubert syndrome 21 |
| RS587777143 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS587777145 | Health Risk | Pathogenic | Joubert syndrome 21, Meckel-Gruber syndrome, CSPP1-related disorder |
| RS587777146 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS750696284 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS752908017 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS755739341 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS756752153 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS760205035 | Health Risk | Pathogenic | Joubert syndrome 21, Inborn genetic diseases, Uveal melanoma |
| RS760275528 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS761382780 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS762868036 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS763103286 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS766529852 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS770180877 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |
| RS770296270 | Health Risk | Pathogenic | Joubert syndrome 21, Inborn genetic diseases, Joubert syndrome 21 |
| RS771203308 | Health Risk | Pathogenic | Joubert syndrome 21, Joubert syndrome 21 |