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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - OMIM | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome 21 | IAGP | 7240710 | OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Phenotype Annotations
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References - curated| 1. | OMIM Disease Annotation Pipeline |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
| 4. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 12477932 14702039 15580290 16344560 16826565 18187620 19129481 20301500 20519441 21399614 21873635 24255178 24360803 24360807 24360808 24613305 24901235 25281560 25416956 26186194 26241740 26378239 26496610 26638075 27173435 27880917 28514442 29053956 29742019 30965236 |
Comparative Map Data| CSPP1 (Homo sapiens - human) |
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| Cspp1 (Mus musculus - house mouse) |
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| Cspp1 (Rattus norvegicus - Norway rat) |
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| Cspp1 (Chinchilla lanigera - long-tailed chinchilla) |
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| CSPP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CSPP1 (Canis lupus familiaris - dog) |
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| Cspp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CSPP1 (Sus scrofa - pig) |
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| CSPP1 (Chlorocebus sabaeus - green monkey) |
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| Cspp1 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| SHGC-37325 |
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| D8S1409E |
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| SHGC-36348 |
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| RH11702 |
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| RH46944 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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RNA-SEQ Expression| leukocyte | uterine cervix | nose | pituitary gland | peripheral nervous system | zone of skin | lymph node | large intestine | oral cavity | blood | breast | throat | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | eye | pleura | penis | ovary | uterus | vagina | mammalian vulva | seminal vesicle | vas deferens | adipose tissue | musculature | chordate pharynx | esophagus | saliva-secreting gland | rectum | skeletal muscle tissue | smooth muscle tissue | caecum | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | endometrium | epididymis | muscle of leg | muscle of arm | artery | nasal septum | tongue | submandibular gland | skeletal muscle of trunk | parotid gland | temporal lobe | parietal lobe | caudate nucleus | putamen | globus pallidus | amygdala | forebrain | diencephalon | medulla oblongata | pineal body | placenta | occipital lobe | hindbrain | epithelium of bronchus | cerebellum | substantia nigra | thyroid gland | lung | left cardiac atrium | spleen | liver | small intestine | gall bladder | kidney | duodenum | ileum | tricuspid valve | mitral valve | pulmonary valve | locus ceruleus | spinal cord | dura mater | prostate gland | adrenal gland | thymus | bone marrow | tonsil | connective tissue | hematopoietic system | bile duct | cartilage tissue | hippocampal formation | bone tissue | middle frontal gyrus | middle temporal gyrus | trachea | brain meninx | mouth mucosa | fallopian tube | left kidney | dorsal thalamus | umbilical cord blood | venous blood | frontal lobe | occipital cortex | left renal pelvis | right renal pelvis | distal gut | proximal gut | terminal ileum | |
| High | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 14 | 15 | 104 | 12 | 33 | 3 | 141 | 85 | 19 | 25 | 33 | 8 | 48 | 3 | 128 | 12 | 3 | 3 | 1 | 20 | 2 | 32 | 1 | 1 | 11 | 84 | 1 | 1 | 3 | 13 | 2 | 11 | 8 | 155 | 45 | 1 | 3 | 64 | 1 | 5 | 2 | 3 | 3 | 4 | 73 | 1 | 1 | 33 | 2 | 1 | 1 | 8 | 1 | 1 | 1 | 1 | 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Low | 1 | 27 | 1 | 1 | 2 | 196 | 14 | 55 | 1 | 481 | 85 | 1 | 10 | 1 | 3 | 39 | 17 | 63 | 1 | 1 | 1 | 53 | 39 | 1 | 1 | 1 | 3 | 1 | 1 | 13 | 1 | 3 | 7 | 2 | 2 | 2 | 16 | 2 | 28 | 29 | 1 | 1 | 1 | 1 | 6 | 1 | 1 | 1 | 2 | 2 | 1 | 1 | 1 | 1 | 7 | 1 | 1 | 3 | 2 | 2 | 2 | 1 | 53 | 155 | 1 | 3 | 187 | 3 | 1 | 200 | 2 | 1 | 1 | 1 | 1 | 3 | 1 | 24 | 4 | 1 | 3 | 2 | 2 | 9 | 1 | 1 | 1 | 10 | 1 | 1 | 1 | 1 | 41 | 1 | 5 | 9 | 1 | 1 | ||||||||||||||||
| Below cutoff | 1 | 1 | 1 | 1 | 1 |
Nucleotide Sequences| RefSeq Transcripts | NG_034100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001291339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001363131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001363132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001363133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001364869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001364870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_024790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005251305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006716474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006716477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517601 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517602 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517611 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017013858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC087359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC109335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ583433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK026143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK096205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK127108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK308372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AM156947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC022867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC029445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BG698003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM555375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX649147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CA447290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA177690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA245734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB030075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB046430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DW426634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| HY040643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000262210 ⟹ ENSP00000262210 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000519163 ⟹ ENSP00000428694 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000519668 ⟹ ENSP00000430092 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000519701 ⟹ ENSP00000428793 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000521168 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000521324 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000521919 ⟹ ENSP00000429546 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001291339 ⟹ NP_001278268 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
CAGTCAGACCGCTAACAGGAGAAATGGAATATTAAGTATAGTATATTGTTCCCCCTCACCTTTThide sequence |
| RefSeq Acc Id: | NM_001363131 ⟹ NP_001350060 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001363132 ⟹ NP_001350061 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001363133 ⟹ NP_001350062 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001364869 ⟹ NP_001351798 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001364870 ⟹ NP_001351799 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_024790 ⟹ NP_079066 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GAGGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGCTCCAGGTGGCCGCTGTAACChide sequence |
| RefSeq Acc Id: | XM_005251305 ⟹ XP_005251362 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_006716474 ⟹ XP_006716537 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_006716477 ⟹ XP_006716540 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_011517598 ⟹ XP_011515900 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_011517599 ⟹ XP_011515901 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_011517600 ⟹ XP_011515902 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_011517601 ⟹ XP_011515903 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_011517602 ⟹ XP_011515904 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_011517603 ⟹ XP_011515905 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCGAGCGGAGGGCTGGGCCTGAGGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGChide sequence |
| RefSeq Acc Id: | XM_011517607 ⟹ XP_011515909 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTATAGGTACCTThide sequence |
| RefSeq Acc Id: | XM_011517609 ⟹ XP_011515911 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTTCTTCCTCTGTCTCAGGCACTCATTCATATATTCATTTGCAGATTTATTCAATGAACATTTThide sequence |
| RefSeq Acc Id: | XM_011517611 ⟹ XP_011515913 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TAATTTTATTAGTAAATCATTTAAAAATAAATCATTAGTTATTGTGTTACTTGAGGGACTTTGGhide sequence |
| RefSeq Acc Id: | XM_017013847 ⟹ XP_016869336 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_017013848 ⟹ XP_016869337 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_017013849 ⟹ XP_016869338 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_017013850 ⟹ XP_016869339 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_017013851 ⟹ XP_016869340 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTGAGGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGCTCCAGGTGGCCGCTGTAAhide sequence |
| RefSeq Acc Id: | XM_017013852 ⟹ XP_016869341 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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|||||||||
| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_017013854 ⟹ XP_016869343 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_017013855 ⟹ XP_016869344 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
ATTAAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTAThide sequence |
| RefSeq Acc Id: | XM_017013856 ⟹ XP_016869345 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CTGAGGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGCTCCAGGTGGCCGCTGTAAhide sequence |
| RefSeq Acc Id: | XM_017013858 ⟹ XP_016869347 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GCTGTAACCTCTTCGGTCCGCGACGATCCTCTAGAGCACTGTGTGTCTCCCCGGACGCGAGCCChide sequence |
| RefSeq Acc Id: | XM_024447278 ⟹ XP_024303046 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGCGAGCGGAGGGCTGGGCCTGAGGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGhide sequence |
| RefSeq Acc Id: | XM_024447279 ⟹ XP_024303047 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAAGGTAGCTGGAGCCTTAAGAGCGGGATGTGGAGGGCGGAAAGTGTTTTTGTGTGGGTATAGGhide sequence |
| RefSeq Acc Id: | XM_024447281 ⟹ XP_024303049 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGAGGTCTGTCATGCTGTTCCCGCTCCAGGTGGCCGCTGTAACCTCTTCGGTCCGCGACGATCChide sequence |
| RefSeq Acc Id: | XM_024447282 ⟹ XP_024303050 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GCGAGCGGAGGGCTGGGCCTGAGGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGChide sequence |
| RefSeq Acc Id: | XM_024447283 ⟹ XP_024303051 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGCTCCAGGTGGCCGCTGTAACCTChide sequence |
| RefSeq Acc Id: | XM_024447284 ⟹ XP_024303052 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CTGTTCCCGCTCCAGGTGGCCGCTGTAACCTCTTCGGTCCGCGACGATCCTCTAGAGCACTGTGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001278268 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001350060 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001350061 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001350062 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001351798 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001351799 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_079066 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005251362 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006716537 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006716540 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515900 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515901 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515902 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515903 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515904 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515905 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515909 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515911 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011515913 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869336 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869337 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869338 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869339 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869340 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869341 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869343 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869344 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869345 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869347 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303046 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303047 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303049 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303050 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303051 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303052 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH22867 | (Get FASTA) | NCBI Sequence Viewer |
| BAB15375 | (Get FASTA) | NCBI Sequence Viewer | |
| CAE47426 | (Get FASTA) | NCBI Sequence Viewer | |
| CAJ42307 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW86932 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW86933 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW86934 | (Get FASTA) | NCBI Sequence Viewer | |
| Q1MSJ5 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_079066 ⟸ NM_024790 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q1MSJ5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELESDPPhide sequence |
| RefSeq Acc Id: | XP_005251362 ⟸ XM_005251305 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_006716540 ⟸ XM_006716477 |
| - Peptide Label: | isoform X19 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_006716537 ⟸ XM_006716474 |
| - Peptide Label: | isoform X9 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | NP_001278268 ⟸ NM_001291339 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q1MSJ5 (UniProtKB/Swiss-Prot), Q9H688 (UniProtKB/TrEMBL) |
| - Sequence: |
MDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSNIRISSAENKSAPDNETSKhide sequence |
| RefSeq Acc Id: | XP_011515900 ⟸ XM_011517598 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_011515901 ⟸ XM_011517599 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_011515902 ⟸ XM_011517600 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_011515903 ⟸ XM_011517601 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_011515904 ⟸ XM_011517602 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_011515909 ⟸ XM_011517607 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGhide sequence |
| RefSeq Acc Id: | XP_011515905 ⟸ XM_011517603 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGhide sequence |
| RefSeq Acc Id: | XP_011515911 ⟸ XM_011517609 |
| - Peptide Label: | isoform X24 |
| - Sequence: |
MDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSNIRISSAENKSAPDNETSKhide sequence |
| RefSeq Acc Id: | XP_011515913 ⟸ XM_011517611 |
| - Peptide Label: | isoform X28 |
| - Sequence: |
MNTVGQNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQIREREERRKKEREEKEEYEAhide sequence |
| RefSeq Acc Id: | XP_016869336 ⟸ XM_017013847 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_016869337 ⟸ XM_017013848 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_016869343 ⟸ XM_017013854 |
| - Peptide Label: | isoform X20 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_016869338 ⟸ XM_017013849 |
| - Peptide Label: | isoform X10 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_016869339 ⟸ XM_017013850 |
| - Peptide Label: | isoform X12 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_016869341 ⟸ XM_017013852 |
| - Peptide Label: | isoform X16 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_016869344 ⟸ XM_017013855 |
| - Peptide Label: | isoform X21 |
| - Sequence: |
MRPPGQQGAMSCRAAACSGGGAVPGGWRRASGGLGLRGGAPARRSVMLFPLQVAAVTSSVRDDPhide sequence |
| RefSeq Acc Id: | XP_016869340 ⟸ XM_017013851 |
| - Peptide Label: | isoform X15 |
| - Sequence: |
MADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGhide sequence |
| RefSeq Acc Id: | XP_016869345 ⟸ XM_017013856 |
| - Peptide Label: | isoform X23 |
| - Sequence: |
MADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGhide sequence |
| RefSeq Acc Id: | XP_016869347 ⟸ XM_017013858 |
| - Peptide Label: | isoform X27 |
| - Sequence: |
MIPPERPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLhide sequence |
| RefSeq Acc Id: | XP_024303047 ⟸ XM_024447279 |
| - Peptide Label: | isoform X14 |
| - Sequence: |
MADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGhide sequence |
| RefSeq Acc Id: | XP_024303046 ⟸ XM_024447278 |
| - Peptide Label: | isoform X13 |
| - Sequence: |
MADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGhide sequence |
| RefSeq Acc Id: | XP_024303050 ⟸ XM_024447282 |
| - Peptide Label: | isoform X22 |
| - Sequence: |
MADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGhide sequence |
| RefSeq Acc Id: | XP_024303051 ⟸ XM_024447283 |
| - Peptide Label: | isoform X25 |
| - Sequence: |
MDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSNIRISSAENKSAPDNETSKhide sequence |
| RefSeq Acc Id: | XP_024303049 ⟸ XM_024447281 |
| - Peptide Label: | isoform X18 |
| - Sequence: |
MADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGhide sequence |
| RefSeq Acc Id: | XP_024303052 ⟸ XM_024447284 |
| - Peptide Label: | isoform X26 |
| - Sequence: |
MIPPERPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLhide sequence |
| RefSeq Acc Id: | NP_001350061 ⟸ NM_001363132 |
| - Peptide Label: | isoform 4 |
| RefSeq Acc Id: | NP_001350060 ⟸ NM_001363131 |
| - Peptide Label: | isoform 3 |
| RefSeq Acc Id: | NP_001350062 ⟸ NM_001363133 |
| - Peptide Label: | isoform 5 |
| RefSeq Acc Id: | NP_001351798 ⟸ NM_001364869 |
| - Peptide Label: | isoform 6 |
| RefSeq Acc Id: | NP_001351799 ⟸ NM_001364870 |
| - Peptide Label: | isoform 7 |
| RefSeq Acc Id: | ENSP00000428694 ⟸ ENST00000519163 |
| RefSeq Acc Id: | ENSP00000430092 ⟸ ENST00000519668 |
| RefSeq Acc Id: | ENSP00000428793 ⟸ ENST00000519701 |
| RefSeq Acc Id: | ENSP00000429546 ⟸ ENST00000521919 |
| RefSeq Acc Id: | ENSP00000262210 ⟸ ENST00000262210 |
Promoters| RGD ID: | 7213455 | |||||||||
| Promoter ID: | EPDNEW_H12473 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CSPP1_2 | |||||||||
| Description: | centrosome and spindle pole associated protein 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H12474 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 7213457 | |||||||||
| Promoter ID: | EPDNEW_H12474 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CSPP1_1 | |||||||||
| Description: | centrosome and spindle pole associated protein 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H12473 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6806579 | |||||||||
| Promoter ID: | HG_KWN:61437 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000389042, NM_001077204, NM_024790, UC003XXG.1, UC003XXH.1 | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_024790.6(CSPP1):c.1802del (p.Leu601fs) | deletion | not provided [RCV000520172] | Chr8:67132068 [GRCh38] Chr8:68044303 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
| NM_024790.6(CSPP1):c.1835_1845del (p.Arg612fs) | deletion | not provided [RCV000627450] | Chr8:67137468..67137478 [GRCh38] Chr8:68049703..68049713 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.3440_3445del (p.Lys1147_Pro1148del) | deletion | not provided [RCV000722367] | Chr8:67193586..67193591 [GRCh38] Chr8:68105821..68105826 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.980_1004dup (p.Ile336_Glu337insSerTyrGlyThrTer) | duplication | not provided [RCV000722637] | Chr8:67103065..67103066 [GRCh38] Chr8:68015300..68015301 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.1678G>A (p.Val560Ile) | single nucleotide variant | Joubert syndrome 21 [RCV000703453]|not specified [RCV000521993] | Chr8:67118817 [GRCh38] Chr8:68031052 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) | single nucleotide variant | JOUBERT SYNDROME 21 [RCV000087066]|Joubert syndrome 21 [RCV000087066] | Chr8:67158540 [GRCh38] Chr8:68070775 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) | deletion | JOUBERT SYNDROME 21 [RCV000087067]|Joubert syndrome 21 [RCV000087067] | Chr8:67158463..67158464 [GRCh38] Chr8:68070698..68070699 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.2280del (p.Glu761fs) | deletion | JOUBERT SYNDROME 21 [RCV000087068]|Joubert syndrome 21 [RCV000087068] | Chr8:67158500 [GRCh38] Chr8:68070735 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) | duplication | JOUBERT SYNDROME 21 [RCV000087069]|Joubert syndrome 21 [RCV000087069] | Chr8:67190655..67190656 [GRCh38] Chr8:68102890..68102891 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.2953+1G>A | single nucleotide variant | JOUBERT SYNDROME 21 [RCV000087070]|Joubert syndrome 21 [RCV000087070] | Chr8:67172556 [GRCh38] Chr8:68084791 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.2527_2528del (p.Met843fs) | deletion | JOUBERT SYNDROME 21 [RCV000087071]|Joubert syndrome 21 [RCV000087071] | Chr8:67161814..67161815 [GRCh38] Chr8:68074049..68074050 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) | single nucleotide variant | JOUBERT SYNDROME 21 [RCV000087072]|Joubert syndrome 21 [RCV000087072] | Chr8:67095440 [GRCh38] Chr8:68007675 [GRCh37] Chr8:8q13.1 |
pathogenic |
| NM_024790.6(CSPP1):c.363_364del (p.His121fs) | deletion | JOUBERT SYNDROME 21 [RCV000087073]|Joubert syndrome 21 [RCV000087073] | Chr8:67086061..67086062 [GRCh38] Chr8:67998296..67998297 [GRCh37] Chr8:8q13.1 |
pathogenic |
| NM_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs) | deletion | JOUBERT SYNDROME 21 [RCV000087074]|Joubert syndrome 21 [RCV000087074]|Meckel-Gruber syndrome [RCV000162164] | Chr8:67158463..67158466 [GRCh38] Chr8:68070698..68070701 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
| NM_024790.6(CSPP1):c.652C>T (p.Gln218Ter) | single nucleotide variant | JOUBERT SYNDROME 21 [RCV000087075]|Joubert syndrome 21 [RCV000087075] | Chr8:67095434 [GRCh38] Chr8:68007669 [GRCh37] Chr8:8q13.1 |
pathogenic |
| NM_024790.6(CSPP1):c.2773C>T (p.Arg925Ter) | single nucleotide variant | JOUBERT SYNDROME 21 [RCV000087076]|Joubert syndrome 21 [RCV000087076] | Chr8:67164468 [GRCh38] Chr8:68076703 [GRCh37] Chr8:8q13.2 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | Seizures [RCV000051206]|See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 | copy number gain | Cleft palate, isolated [RCV000053653]|See cases [RCV000053653] | Chr8:57361243..79170078 [GRCh38] Chr8:58273802..80082313 [GRCh37] Chr8:58436356..80244868 [NCBI36] Chr8:8q12.1-21.13 |
pathogenic |
| GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053654]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053654]|See cases [RCV000053654] | Chr8:61691800..82537696 [GRCh38] Chr8:62604359..83449931 [GRCh37] Chr8:62766913..83612486 [NCBI36] Chr8:8q12.3-21.13 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 | copy number loss | Preauricular pit [RCV000054242]|See cases [RCV000054242] | Chr8:62230636..73227786 [GRCh38] Chr8:63143195..74140021 [GRCh37] Chr8:63305749..74302575 [NCBI36] Chr8:8q12.3-21.11 |
pathogenic |
| NM_024790.6(CSPP1):c.1481G>A (p.Arg494Lys) | single nucleotide variant | Malignant melanoma [RCV000068371] | Chr8:67116122 [GRCh38] Chr8:68028357 [GRCh37] Chr8:68190911 [NCBI36] Chr8:8q13.2 |
not provided |
| NM_024790.6(CSPP1):c.3512G>A (p.Gly1171Glu) | single nucleotide variant | Malignant melanoma [RCV000068372] | Chr8:67195439 [GRCh38] Chr8:68107674 [GRCh37] Chr8:68270228 [NCBI36] Chr8:8q13.2 |
not provided |
| NM_006837.2(COPS5):c.134G>A (p.Trp45Ter) | single nucleotide variant | Malignant melanoma [RCV000061823] | Chr8:67061863 [GRCh38] Chr8:67974098 [GRCh37] Chr8:68136652 [NCBI36] Chr8:8q13.1 |
not provided |
| NM_024790.6(CSPP1):c.457del (p.Arg153fs) | deletion | Joubert syndrome 21 [RCV000201561] | Chr8:67093588 [GRCh38] Chr8:68005823 [GRCh37] Chr8:8q13.1 |
pathogenic |
| NM_024790.6(CSPP1):c.3205+1G>A | single nucleotide variant | Joubert syndrome 21 [RCV000201570] | Chr8:67179927 [GRCh38] Chr8:68092162 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.950+1G>C | single nucleotide variant | Joubert syndrome 21 [RCV000201587] | Chr8:67095733 [GRCh38] Chr8:68007968 [GRCh37] Chr8:8q13.1 |
pathogenic |
| NM_024790.6(CSPP1):c.1682+1G>T | single nucleotide variant | Joubert syndrome 21 [RCV000201750] | Chr8:67118822 [GRCh38] Chr8:68031057 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.362_363delAT (p.His121Glnfs) | deletion | Joubert syndrome 21 [RCV000201624] | Chr8:67086061..67086062 [GRCh38] Chr8:67998296..67998297 [GRCh37] Chr8:8q13.1 |
pathogenic |
| NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[1] (p.Glu472fs) | microsatellite | Joubert syndrome 21 [RCV000201764] | Chr8:67159050..67159056 [GRCh38] Chr8:68071285..68071291 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000201690]|not provided [RCV000520785] | Chr8:67111983 [GRCh38] Chr8:68024218 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
| NM_024790.6(CSPP1):c.2708del (p.Asn903fs) | deletion | Joubert syndrome 21 [RCV000201696] | Chr8:67164396 [GRCh38] Chr8:68076631 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[3] (p.Glu474fs) | microsatellite | Joubert syndrome 21 [RCV000201734] | Chr8:67159049..67159050 [GRCh38] Chr8:68071284..68071285 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_001291339.1(CSPP1):c.1398_1401AGAA[2] (p.Lys469fs) | microsatellite | Joubert syndrome 21 [RCV000201671] | Chr8:67159047..67159050 [GRCh38] Chr8:68071282..68071285 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.2260C>T (p.Arg754Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000201785] | Chr8:67158480 [GRCh38] Chr8:68070715 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 | copy number gain | See cases [RCV000133720] | Chr8:46031334..69303787 [GRCh38] Chr8:46942956..70216022 [GRCh37] Chr8:47062121..70378576 [NCBI36] Chr8:8q11.1-13.2 |
pathogenic |
| GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 | copy number gain | See cases [RCV000137050] | Chr8:66171669..93505509 [GRCh38] Chr8:67083904..94517737 [GRCh37] Chr8:67246458..94586913 [NCBI36] Chr8:8q13.1-22.1 |
pathogenic |
| GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 | copy number gain | See cases [RCV000138027] | Chr8:66633845..80100089 [GRCh38] Chr8:67546080..81012324 [GRCh37] Chr8:67708634..81174879 [NCBI36] Chr8:8q13.1-21.13 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
| GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3 | copy number gain | See cases [RCV000141417] | Chr8:66968881..67271875 [GRCh38] Chr8:67881116..68184110 [GRCh37] Chr8:68043670..68346664 [NCBI36] Chr8:8q13.1-13.2 |
uncertain significance |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| NM_024790.6(CSPP1):c.212A>G (p.Lys71Arg) | single nucleotide variant | not provided [RCV000513710] | Chr8:67076486 [GRCh38] Chr8:67988721 [GRCh37] Chr8:8q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024790.6(CSPP1):c.1049+5A>C | single nucleotide variant | not specified [RCV000193005] | Chr8:67103140 [GRCh38] Chr8:68015375 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.1180G>T (p.Glu394Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000313356]|not provided [RCV000426028] | Chr8:67112031 [GRCh38] Chr8:68024266 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.1813-4C>A | single nucleotide variant | not provided [RCV000488123] | Chr8:67137452 [GRCh38] Chr8:68049687 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.3380_3382del (p.Val1127del) | deletion | not specified [RCV000488973] | Chr8:67193526..67193528 [GRCh38] Chr8:68105761..68105763 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.457_458del (p.Arg153fs) | deletion | not provided [RCV000522105] | Chr8:67093588..67093589 [GRCh38] Chr8:68005823..68005824 [GRCh37] Chr8:8q13.1 |
pathogenic |
| NM_024790.6(CSPP1):c.3451dup (p.Thr1151fs) | duplication | not specified [RCV000598647] | Chr8:67193598..67193599 [GRCh38] Chr8:68105833..68105834 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.3555_3557dup (p.Ser1186dup) | duplication | not provided [RCV000723134] | Chr8:67195480..67195481 [GRCh38] Chr8:68107715..68107716 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.2377-8_2377-4del | microsatellite | Joubert syndrome 21 [RCV000546968]|not specified [RCV000414459] | Chr8:67158978..67158982 [GRCh38] Chr8:68071213..68071217 [GRCh37] Chr8:8q13.2 |
benign|uncertain significance |
| NM_024790.6(CSPP1):c.399_401delinsCTT (p.Tyr134Phe) | indel | not provided [RCV000722372] | Chr8:67086098..67086100 [GRCh38] Chr8:67998333..67998335 [GRCh37] Chr8:8q13.1 |
uncertain significance |
| NM_024790.6(CSPP1):c.3206-2A>G | single nucleotide variant | not provided [RCV000722928] | Chr8:67190648 [GRCh38] Chr8:68102883 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| GRCh37/hg19 8q13.2(chr8:68041907-68464647)x3 | copy number gain | See cases [RCV000454319] | Chr8:68041907..68464647 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| NM_024790.6(CSPP1):c.3390T>G (p.Leu1130=) | single nucleotide variant | not provided [RCV000950923]|not specified [RCV000420814] | Chr8:67193538 [GRCh38] Chr8:68105773 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.159C>T (p.Ala53=) | single nucleotide variant | Joubert syndrome 21 [RCV000652007]|not specified [RCV000438057] | Chr8:67074303 [GRCh38] Chr8:67986538 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.-12C>T | single nucleotide variant | not specified [RCV000435194] | Chr8:67064387 [GRCh38] Chr8:67976622 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.2524-12T>A | single nucleotide variant | not specified [RCV000425283] | Chr8:67161799 [GRCh38] Chr8:68074034 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2377-17C>T | single nucleotide variant | not specified [RCV000428859] | Chr8:67158974 [GRCh38] Chr8:68071209 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.1272+15C>T | single nucleotide variant | not specified [RCV000439242] | Chr8:67113877 [GRCh38] Chr8:68026112 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.3205+13A>G | single nucleotide variant | not specified [RCV000432453] | Chr8:67179939 [GRCh38] Chr8:68092174 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) | single nucleotide variant | Joubert syndrome 21 [RCV000550141]|not specified [RCV000432483] | Chr8:67190742 [GRCh38] Chr8:68102977 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) | single nucleotide variant | Joubert syndrome 21 [RCV000535434]|not specified [RCV000439471] | Chr8:67177708 [GRCh38] Chr8:68089943 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.3416G>A (p.Arg1139Gln) | single nucleotide variant | not provided [RCV000426272] | Chr8:67193564 [GRCh38] Chr8:68105799 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.30A>G (p.Val10=) | single nucleotide variant | Joubert syndrome 21 [RCV000557114]|not specified [RCV000443482] | Chr8:67064428 [GRCh38] Chr8:67976663 [GRCh37] Chr8:8q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1 | copy number loss | See cases [RCV000445999] | Chr8:65194424..68570319 [GRCh37] Chr8:8q12.3-13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.2575A>C (p.Ser859Arg) | single nucleotide variant | not provided [RCV000949165]|not specified [RCV000419909] | Chr8:67161862 [GRCh38] Chr8:68074097 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) | single nucleotide variant | Joubert syndrome 21 [RCV000560276]|not specified [RCV000440178] | Chr8:67195405 [GRCh38] Chr8:68107640 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
| NM_024790.6(CSPP1):c.1245G>C (p.Ala415=) | single nucleotide variant | not provided [RCV000940161]|not specified [RCV000440201] | Chr8:67113835 [GRCh38] Chr8:68026070 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.994G>A (p.Asp332Asn) | single nucleotide variant | not provided [RCV000436109] | Chr8:67103080 [GRCh38] Chr8:68015315 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.2615G>A (p.Arg872His) | single nucleotide variant | not specified [RCV000440846] | Chr8:67161902 [GRCh38] Chr8:68074137 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.2953+5G>A | single nucleotide variant | not specified [RCV000444612] | Chr8:67172560 [GRCh38] Chr8:68084795 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.98+19C>G | single nucleotide variant | not specified [RCV000420412] | Chr8:67064515 [GRCh38] Chr8:67976750 [GRCh37] Chr8:8q13.1 |
benign |
| NM_024790.6(CSPP1):c.3270C>T (p.Pro1090=) | single nucleotide variant | not provided [RCV000945690]|not specified [RCV000437529] | Chr8:67190714 [GRCh38] Chr8:68102949 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
| NM_024790.6(CSPP1):c.2002C>A (p.His668Asn) | single nucleotide variant | not specified [RCV000483524] | Chr8:67149824 [GRCh38] Chr8:68062059 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.2113+36del | deletion | not specified [RCV000454556] | Chr8:67149948 [GRCh38] Chr8:68062183 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.3095-1G>A | single nucleotide variant | not provided [RCV000483022] | Chr8:67177679 [GRCh38] Chr8:68089914 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
| NM_024790.6(CSPP1):c.841C>T (p.Arg281Trp) | single nucleotide variant | not specified [RCV000481792] | Chr8:67095623 [GRCh38] Chr8:68007858 [GRCh37] Chr8:8q13.1 |
uncertain significance |
| NM_024790.6(CSPP1):c.1604-15_1604-8del | microsatellite | not specified [RCV000486182] | Chr8:67118714..67118721 [GRCh38] Chr8:68030949..68030956 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.1050-7dup | duplication | not specified [RCV000478525] | Chr8:67105891..67105892 [GRCh38] Chr8:68018126..68018127 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.134T>C (p.Ile45Thr) | single nucleotide variant | not specified [RCV000478974] | Chr8:67074278 [GRCh38] Chr8:67986513 [GRCh37] Chr8:8q13.1 |
uncertain significance |
| NM_024790.6(CSPP1):c.2205C>A (p.Tyr735Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000503871] | Chr8:67154115 [GRCh38] Chr8:68066350 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
| NM_024790.6(CSPP1):c.2814-10_2953+10del | deletion | Joubert syndrome 21 [RCV000501762] | Chr8:67172404..67172563 [GRCh38] Chr8:68084639..68084798 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.*6A>G | single nucleotide variant | not specified [RCV000499657] | Chr8:67195599 [GRCh38] Chr8:68107834 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| NM_024790.6(CSPP1):c.3230C>T (p.Ala1077Val) | single nucleotide variant | not specified [RCV000498042] | Chr8:67190674 [GRCh38] Chr8:68102909 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.3150T>C (p.Asp1050=) | single nucleotide variant | not provided [RCV000878340]|not specified [RCV000502767] | Chr8:67179871 [GRCh38] Chr8:68092106 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
| NM_024790.6(CSPP1):c.2113+13delT | deletion | not specified [RCV000493201] | Chr8:67149948 [GRCh38] Chr8:68062183 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.3632T>A (p.Phe1211Tyr) | single nucleotide variant | not specified [RCV000493427] | Chr8:67195559 [GRCh38] Chr8:68107794 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| NM_024790.6(CSPP1):c.1962T>C (p.Thr654=) | single nucleotide variant | Joubert syndrome 21 [RCV000558436]|not specified [RCV000615327] | Chr8:67149784 [GRCh38] Chr8:68062019 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.1376C>G (p.Ser459Cys) | single nucleotide variant | not provided [RCV000878181]|not specified [RCV000605361] | Chr8:67116017 [GRCh38] Chr8:68028252 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
| NM_024790.6(CSPP1):c.475A>G (p.Ser159Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000534027] | Chr8:67093606 [GRCh38] Chr8:68005841 [GRCh37] Chr8:8q13.1 |
uncertain significance |
| NM_024790.6(CSPP1):c.2279C>A (p.Ala760Glu) | single nucleotide variant | Joubert syndrome 21 [RCV000536770] | Chr8:67158499 [GRCh38] Chr8:68070734 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.3094+18C>T | single nucleotide variant | not specified [RCV000615664] | Chr8:67175454 [GRCh38] Chr8:68087689 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2872C>T (p.Pro958Ser) | single nucleotide variant | not provided [RCV000514476] | Chr8:67172474 [GRCh38] Chr8:68084709 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.3095-11A>G | single nucleotide variant | not specified [RCV000612679] | Chr8:67177669 [GRCh38] Chr8:68089904 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.208-13A>G | single nucleotide variant | not specified [RCV000615498] | Chr8:67076469 [GRCh38] Chr8:67988704 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.2406G>A (p.Arg802=) | single nucleotide variant | not provided [RCV000879848]|not specified [RCV000615901] | Chr8:67159020 [GRCh38] Chr8:68071255 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.113C>T (p.Ala38Val) | single nucleotide variant | Joubert syndrome 21 [RCV000652005] | Chr8:67074257 [GRCh38] Chr8:67986492 [GRCh37] Chr8:8q13.1 |
uncertain significance |
| NM_024790.6(CSPP1):c.2512dup (p.Glu838fs) | duplication | Joubert syndrome 21 [RCV000652006] | Chr8:67159122..67159123 [GRCh38] Chr8:68071357..68071358 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) | single nucleotide variant | Joubert syndrome 21 [RCV000652008] | Chr8:67158473 [GRCh38] Chr8:68070708 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2107A>G (p.Ser703Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000652009] | Chr8:67149929 [GRCh38] Chr8:68062164 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.99-5dup | duplication | not specified [RCV000602155] | Chr8:67074229..67074230 [GRCh38] Chr8:67986464..67986465 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) | single nucleotide variant | Global developmental delay [RCV000735303]|Joubert syndrome 21 [RCV000714686]|not specified [RCV000608030] | Chr8:67190725 [GRCh38] Chr8:68102960 [GRCh37] Chr8:8q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024790.6(CSPP1):c.1931C>T (p.Pro644Leu) | single nucleotide variant | Joubert syndrome 21 [RCV000656094] | Chr8:67137574 [GRCh38] Chr8:68049809 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.3455-20G>T | single nucleotide variant | not specified [RCV000604720] | Chr8:67195362 [GRCh38] Chr8:68107597 [GRCh37] Chr8:8q13.2 |
likely benign |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
| NM_024790.6(CSPP1):c.3206-19C>T | single nucleotide variant | not specified [RCV000601091] | Chr8:67190631 [GRCh38] Chr8:68102866 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2146C>G (p.Arg716Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000656095] | Chr8:67154056 [GRCh38] Chr8:68066291 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.2763T>C (p.Arg921=) | single nucleotide variant | not provided [RCV000658432] | Chr8:67164458 [GRCh38] Chr8:68076693 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.1660C>A (p.His554Asn) | single nucleotide variant | Joubert syndrome 21 [RCV000698077] | Chr8:67118799 [GRCh38] Chr8:68031034 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.1968G>C (p.Leu656Phe) | single nucleotide variant | Joubert syndrome 21 [RCV000697951] | Chr8:67149790 [GRCh38] Chr8:68062025 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| GRCh37/hg19 8q13.1-13.2(chr8:67951205-68078373)x1 | copy number loss | not provided [RCV000682931] | Chr8:67951205..68078373 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
| GRCh37/hg19 8q13.2(chr8:68038759-68245969)x3 | copy number gain | not provided [RCV000682943] | Chr8:68038759..68245969 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.3494_3497dup (p.His1166fs) | duplication | Joubert syndrome 21 [RCV000687761] | Chr8:67195419..67195420 [GRCh38] Chr8:68107654..68107655 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.1088A>G (p.Asp363Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000703006] | Chr8:67105943 [GRCh38] Chr8:68018178 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
| NC_000008.10:g.(?_68024187)_(68107848_?)dup | duplication | Joubert syndrome 21 [RCV000708130] | Chr8:67111952..67195613 [GRCh38] Chr8:68024187..68107848 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.2815A>T (p.Lys939Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000705921] | Chr8:67172417 [GRCh38] Chr8:68084652 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.167_168del (p.Lys56fs) | deletion | Joubert syndrome 21 [RCV000697916] | Chr8:67074310..67074311 [GRCh38] Chr8:67986545..67986546 [GRCh37] Chr8:8q13.1 |
pathogenic |
| NM_024790.6(CSPP1):c.2525del (p.His842fs) | deletion | Joubert syndrome 21 [RCV000695658] | Chr8:67161812 [GRCh38] Chr8:68074047 [GRCh37] Chr8:8q13.2 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| NM_024790.6(CSPP1):c.189A>T (p.Pro63=) | single nucleotide variant | not provided [RCV000939853] | Chr8:67074333 [GRCh38] Chr8:67986568 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.1480A>G (p.Arg494Gly) | single nucleotide variant | not provided [RCV000999042] | Chr8:67116121 [GRCh38] Chr8:68028356 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.538A>G (p.Ile180Val) | single nucleotide variant | not provided [RCV000950322] | Chr8:67095320 [GRCh38] Chr8:68007555 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.114T>C (p.Ala38=) | single nucleotide variant | not provided [RCV000945917] | Chr8:67074258 [GRCh38] Chr8:67986493 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.1236G>A (p.Arg412=) | single nucleotide variant | not provided [RCV000903427] | Chr8:67113826 [GRCh38] Chr8:68026061 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2661G>A (p.Pro887=) | single nucleotide variant | not provided [RCV000924108] | Chr8:67163764 [GRCh38] Chr8:68075999 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.1506C>T (p.Pro502=) | single nucleotide variant | not provided [RCV000877813] | Chr8:67118272 [GRCh38] Chr8:68030507 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.1168C>T (p.Leu390=) | single nucleotide variant | not provided [RCV000926931] | Chr8:67112019 [GRCh38] Chr8:68024254 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.687A>T (p.Leu229=) | single nucleotide variant | not provided [RCV000920350] | Chr8:67095469 [GRCh38] Chr8:68007704 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.972G>A (p.Gly324=) | single nucleotide variant | not provided [RCV000966558] | Chr8:67103058 [GRCh38] Chr8:68015293 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.842G>A (p.Arg281Gln) | single nucleotide variant | not provided [RCV000877994] | Chr8:67095624 [GRCh38] Chr8:68007859 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.3563C>T (p.Thr1188Met) | single nucleotide variant | not provided [RCV000946259] | Chr8:67195490 [GRCh38] Chr8:68107725 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2657C>T (p.Pro886Leu) | single nucleotide variant | not provided [RCV000900093] | Chr8:67163760 [GRCh38] Chr8:68075995 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.1972A>G (p.Arg658Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000814999] | Chr8:67149794 [GRCh38] Chr8:68062029 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.3660T>C (p.His1220=) | single nucleotide variant | not provided [RCV000945946] | Chr8:67195587 [GRCh38] Chr8:68107822 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.3389T>G (p.Leu1130Arg) | single nucleotide variant | not provided [RCV000960785] | Chr8:67193537 [GRCh38] Chr8:68105772 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.510+10G>C | single nucleotide variant | not provided [RCV000918616] | Chr8:67093651 [GRCh38] Chr8:68005886 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.951-9G>A | single nucleotide variant | not provided [RCV000946165] | Chr8:67103028 [GRCh38] Chr8:68015263 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.1383A>G (p.Pro461=) | single nucleotide variant | not provided [RCV000939708] | Chr8:67116024 [GRCh38] Chr8:68028259 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.1446A>T (p.Gly482=) | single nucleotide variant | not provided [RCV000977880] | Chr8:67116087 [GRCh38] Chr8:68028322 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2226+134C>T | single nucleotide variant | not provided [RCV000832147] | Chr8:67154270 [GRCh38] Chr8:68066505 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.3455-187C>G | single nucleotide variant | not provided [RCV000832148] | Chr8:67195195 [GRCh38] Chr8:68107430 [GRCh37] Chr8:8q13.2 |
benign |
| GRCh37/hg19 8q13.2(chr8:68026827-68064392)x1 | copy number loss | not provided [RCV000845776] | Chr8:68026827..68064392 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.950+83A>G | single nucleotide variant | not provided [RCV000834384] | Chr8:67095815 [GRCh38] Chr8:68008050 [GRCh37] Chr8:8q13.1 |
benign |
| NM_024790.6(CSPP1):c.1683-65C>T | single nucleotide variant | not provided [RCV000834385] | Chr8:67131886 [GRCh38] Chr8:68044121 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.1682+265T>C | single nucleotide variant | not provided [RCV000832802] | Chr8:67119086 [GRCh38] Chr8:68031321 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2798A>G (p.Asp933Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000795882] | Chr8:67164493 [GRCh38] Chr8:68076728 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.1682+227C>G | single nucleotide variant | not provided [RCV000838891] | Chr8:67119048 [GRCh38] Chr8:68031283 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.98+278G>T | single nucleotide variant | not provided [RCV000826887] | Chr8:67064774 [GRCh38] Chr8:67977009 [GRCh37] Chr8:8q13.1 |
benign |
| NM_024790.6(CSPP1):c.154T>C (p.Leu52=) | single nucleotide variant | not provided [RCV000840882] | Chr8:67074298 [GRCh38] Chr8:67986533 [GRCh37] Chr8:8q13.1 |
benign|likely benign |
| NM_024790.6(CSPP1):c.2720A>G (p.Glu907Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000816491] | Chr8:67164415 [GRCh38] Chr8:68076650 [GRCh37] Chr8:8q13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.511-87G>A | single nucleotide variant | not provided [RCV000834315] | Chr8:67095206 [GRCh38] Chr8:68007441 [GRCh37] Chr8:8q13.1 |
benign |
| NM_024790.6(CSPP1):c.1783C>G (p.Gln595Glu) | single nucleotide variant | not provided [RCV000841251] | Chr8:67132051 [GRCh38] Chr8:68044286 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
| GRCh37/hg19 8q13.1-13.2(chr8:67987416-68078373)x1 | copy number loss | not provided [RCV000849921] | Chr8:67987416..68078373 [GRCh37] Chr8:8q13.1-13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.1214+274G>T | single nucleotide variant | not provided [RCV000832913] | Chr8:67112339 [GRCh38] Chr8:68024574 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.511-15T>G | single nucleotide variant | not provided [RCV000827319] | Chr8:67095278 [GRCh38] Chr8:68007513 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.1961-270A>T | single nucleotide variant | not provided [RCV000833340] | Chr8:67149513 [GRCh38] Chr8:68061748 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.992A>G (p.His331Arg) | single nucleotide variant | not provided [RCV000833341] | Chr8:67103078 [GRCh38] Chr8:68015313 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
| NM_024790.6(CSPP1):c.222G>A (p.Ala74=) | single nucleotide variant | not provided [RCV000938256] | Chr8:67076496 [GRCh38] Chr8:67988731 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.1272+197A>G | single nucleotide variant | not provided [RCV000832114] | Chr8:67114059 [GRCh38] Chr8:68026294 [GRCh37] Chr8:8q13.2 |
benign |
| NM_024790.6(CSPP1):c.2793T>C (p.Ser931=) | single nucleotide variant | not provided [RCV000916497] | Chr8:67164488 [GRCh38] Chr8:68076723 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.3316-37G>A | single nucleotide variant | not provided [RCV000839323] | Chr8:67193427 [GRCh38] Chr8:68105662 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.2813+168G>T | single nucleotide variant | not provided [RCV000839356] | Chr8:67164676 [GRCh38] Chr8:68076911 [GRCh37] Chr8:8q13.2 |
likely benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
| GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)x3 | copy number gain | not provided [RCV000848585] | Chr8:67780228..68161496 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
| NM_024790.6(CSPP1):c.2953+1G>T | single nucleotide variant | Joubert syndrome 21 [RCV000991297] | Chr8:67172556 [GRCh38] Chr8:68084791 [GRCh37] Chr8:8q13.2 |
pathogenic |
| NM_024790.6(CSPP1):c.2314A>C (p.Arg772=) | single nucleotide variant | not provided [RCV000975450] | Chr8:67158534 [GRCh38] Chr8:68070769 [GRCh37] Chr8:8q13.2 |
likely benign |
| NM_024790.6(CSPP1):c.659G>T (p.Arg220Leu) | single nucleotide variant | not provided [RCV000878563] | Chr8:67095441 [GRCh38] Chr8:68007676 [GRCh37] Chr8:8q13.1 |
likely benign |
| NM_024790.6(CSPP1):c.1860A>G (p.Glu620=) | single nucleotide variant | not provided [RCV000888342] | Chr8:67137503 [GRCh38] Chr8:68049738 [GRCh37] Chr8:8q13.2 |
likely benign |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:26193 | AgrOrtholog |
| COSMIC | CSPP1 | COSMIC |
| Ensembl Genes | ENSG00000104218 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000262210 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000428694 | UniProtKB/TrEMBL | |
| ENSP00000428793 | UniProtKB/TrEMBL | |
| ENSP00000429546 | UniProtKB/TrEMBL | |
| ENSP00000430092 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000262210 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000519163 | UniProtKB/TrEMBL | |
| ENST00000519668 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000519701 | UniProtKB/TrEMBL | |
| ENST00000521919 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000104218 | GTEx |
| HGNC ID | HGNC:26193 | ENTREZGENE |
| Human Proteome Map | CSPP1 | Human Proteome Map |
| InterPro | CSPP1 | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:79848 | UniProtKB/Swiss-Prot |
| NCBI Gene | 79848 | ENTREZGENE |
| OMIM | 611654 | OMIM |
| 615636 | OMIM | |
| PANTHER | PTHR21616 | UniProtKB/Swiss-Prot |
| PharmGKB | PA142672066 | PharmGKB |
| UniGene | Hs.370147 | ENTREZGENE |
| UniProt | CSPP1_HUMAN | UniProtKB/Swiss-Prot |
| E5RGA5_HUMAN | UniProtKB/TrEMBL | |
| E5RI67_HUMAN | UniProtKB/TrEMBL | |
| F2Z2M5_HUMAN | UniProtKB/TrEMBL | |
| Q1MSJ5 | ENTREZGENE | |
| Q9H688 | ENTREZGENE, UniProtKB/TrEMBL | |
| UniProt Secondary | A6ND63 | UniProtKB/Swiss-Prot |
| Q70F00 | UniProtKB/Swiss-Prot | |
| Q8TBC1 | UniProtKB/Swiss-Prot |
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| More on CSPP1 | |
|
Alliance Gene |
|
NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1605630 |
| Created: | 2007-04-28 |
| Species: | Homo sapiens |
| Last Modified: | 2020-01-21 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
