Imported Annotations - OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choroideremia | IAGP | 7240710 | OMIM | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype Annotations |
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Analyze GeneStrainQTL List |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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Phenotype AnnotationsHuman Phenotype
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References - curated| 1. | Andres DA, etal., Cell 1993 Jun 18;73(6):1091-9. |
| 2. | GOA_HUMAN data from the GO Consortium |
| 3. | OMIM Disease Annotation Pipeline |
| 4. | Online Mendelian Inheritance in Man, OMIM (TM). |
| 5. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | RGD automated import pipeline for gene-chemical interactions |
| 7. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 1302003 1373238 1549574 1598901 1904992 2215697 2220804 7951216 7957092 7981670 8294464 8380507 8477262 8889548 9067750 9437002 9563513 10022613 11141079 11297488 11886217 12477932 12535645 12576024 12620235 12827496 14566650 14702039 15186776 15242790 15465555 15579993 15772651 16087855 16344560 16936131 17698759 18029348 18087237 18385043 18487380 18532927 18773267 19376587 19422966 19427510 19597113 19764077 20027300 20301511 21873635 21905166 21939745 21990357 22025891 22355242 22965595 23273018 23940504 24556642 24672218 24913019 25722215 25912515 26186194 26216097 26344197 26472337 26496610 26720468 27329764 27820636 28055019 28230863 28271586 28514442 28643494 28752371 28774736 28846638 28911202 29367200 29449217 29555028 29568061 29620233 29721948 29940166 30297895 30995293 |
Genomics
Comparative Map Data| CHM (Homo sapiens - human) |
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| Chm (Mus musculus - house mouse) |
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| Chm (Rattus norvegicus - Norway rat) |
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| Chm (Chinchilla lanigera - long-tailed chinchilla) |
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| CHM (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CHM (Canis lupus familiaris - dog) |
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| Chm (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CHM (Sus scrofa - pig) |
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| CHM (Chlorocebus sabaeus - African green monkey) |
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| Chm (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| DXS8326 |
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| GDB:636379 |
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| GDB:636299 |
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| RH119297 |
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| GDB:271316 |
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| GDB:271320 |
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| GDB:452659 |
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| GDB:636308 |
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| GDB:636311 |
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| GDB:636322 |
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| GDB:636328 |
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| GDB:636338 |
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| GDB:636342 |
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| GDB:636348 |
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| WI-11849 |
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| PMC22091P1 |
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| CHM_8255 |
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| STS-M83773 |
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| RH112 |
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| RH46170 |
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| CHM |
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| RH80031 |
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| L29953 |
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| GDB:437724 |
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miRNA Target Status
Predicted Target Of
| 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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Expression
RNA-SEQ ExpressionHigh: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM
| 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 | diaphragm | 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 | heart left ventricle | spleen | liver | small intestine | gall bladder | kidney | duodenum | ileum | tricuspid valve | mitral valve | pulmonary valve | locus ceruleus | spinal cord | umbilical 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 | 1 | 18 | 1 | 1 | 13 | 251 | 12 | 27 | 4 | 298 | 87 | 1 | 18 | 1 | 16 | 43 | 9 | 70 | 1 | 1 | 3 | 1 | 138 | 8 | 1 | 3 | 1 | 1 | 1 | 2 | 22 | 3 | 1 | 3 | 2 | 2 | 2 | 35 | 1 | 1 | 1 | 11 | 102 | 1 | 1 | 1 | 1 | 1 | 9 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 14 | 1 | 1 | 1 | 3 | 2 | 11 | 2 | 1 | 1 | 30 | 218 | 1 | 1 | 3 | 22 | 2 | 3 | 133 | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 16 | 5 | 3 | 2 | 1 | 6 | 29 | 2 | 1 | 40 | 1 | 1 | 1 | 1 | 10 | 1 | 1 | 1 | 3 | 1 | 1 | 1 | 1 | 1 | 1 | |||||||
| Low | 23 | 4 | 51 | 14 | 61 | 324 | 83 | 11 | 12 | 29 | 16 | 41 | 43 | 44 | 2 | 2 | 2 | 11 | 1 | 6 | 13 | 1 | 28 | 11 | 1 | 1 | 1 | 1 | 6 | 2 | 1 | 31 | 91 | 211 | 2 | 1 | 130 | 1 | 1 | 13 | 1 | 1 | 5 | 1 | 53 | 2 | 3 | 33 | 10 | 8 | 1 | 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Below cutoff | 1 | 2 |
View RNA-SEQ Expression Data
Sequence
Nucleotide Sequences| RefSeq Transcripts | NG_009874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_000390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001145414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001320959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001362517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001362518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001362519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029242 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024452331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AH007342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK095883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK291160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK299323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK312443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL009175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL022401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL035451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL138748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY255796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC032237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC063522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC065702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC073987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC105969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC130494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC130496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU688880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA403806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB231066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FB775572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF459204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF510693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| M83773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| S60753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X57637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X78121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | ENST00000357749 ⟹ ENSP00000350386 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000467744 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000483950 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000487515 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000615443 ⟹ ENSP00000484306 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_000390 ⟹ NP_000381 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
|
|||||||||||||||||||||||||||||
| Sequence: |
AAGTAATAGTCACATGACACGTTTCCCGTCAAGATGGCGGATACTCTCCCTTCGGAGTTTGATGhide sequence |
| RefSeq Acc Id: | NM_001145414 ⟹ NP_001138886 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||
| Sequence: |
AAGTAATAGTCACATGACACGTTTCCCGTCAAGATGGCGGATACTCTCCCTTCGGAGTTTGATGhide sequence |
| RefSeq Acc Id: | NM_001320959 ⟹ NP_001307888 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
|
||||||||||||||
| Sequence: |
AGTTACAGGGAGGGGCTGGGACCCGCAGTGCTTATCGCCATTTGAGTAGGGGTTGATCTGGTCGhide sequence |
| RefSeq Acc Id: | NM_001362517 ⟹ NP_001349446 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001362518 ⟹ NP_001349447 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001362519 ⟹ NP_001349448 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | XM_017029242 ⟹ XP_016884731 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGTCACATGACACGTTTCCCGTCAAGATGGCGGATACTCTCCCTTCGGAGTTTGATGTGATCGThide sequence |
| RefSeq Acc Id: | XM_017029246 ⟹ XP_016884735 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAGATGGCGGATACTCTCCCTTCGGAGTTTGATGTGATCGTAATAGGGACGGGTTTGCCTGAAThide sequence |
| RefSeq Acc Id: | XM_024452331 ⟹ XP_024308099 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
ACCTTTGTAACAGAACCTCAACTGTGAAAGTCATGATGGAGGAAACCTCAGTTTCCCCCACTAChide sequence |
Protein Sequences| Protein RefSeqs | NP_000381 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001138886 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001307888 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001349446 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001349447 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001349448 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884731 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884735 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024308099 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA61032 | (Get FASTA) | NCBI Sequence Viewer |
| AAD13814 | (Get FASTA) | NCBI Sequence Viewer | |
| AAD14934 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH65702 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH73987 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI05970 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI30495 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI30497 | (Get FASTA) | NCBI Sequence Viewer | |
| AAP15253 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC04640 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF83849 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG61331 | (Get FASTA) | NCBI Sequence Viewer | |
| CAA40855 | (Get FASTA) | NCBI Sequence Viewer | |
| CAA55011 | (Get FASTA) | NCBI Sequence Viewer | |
| CAV30743 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW98559 | (Get FASTA) | NCBI Sequence Viewer | |
| P24386 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_000381 ⟸ NM_000390 |
| - Peptide Label: | isoform a |
| - UniProtKB: | P24386 (UniProtKB/Swiss-Prot), A8K545 (UniProtKB/TrEMBL) |
| - Sequence: |
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQEhide sequence |
| RefSeq Acc Id: | NP_001138886 ⟸ NM_001145414 |
| - Peptide Label: | isoform b |
| - UniProtKB: | P24386 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQEhide sequence |
| RefSeq Acc Id: | NP_001307888 ⟸ NM_001320959 |
| - Peptide Label: | isoform c |
| - UniProtKB: | P24386 (UniProtKB/Swiss-Prot), A8K545 (UniProtKB/TrEMBL), B4DRL9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKhide sequence |
| RefSeq Acc Id: | XP_016884735 ⟸ XM_017029246 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | B4DRL9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKhide sequence |
| RefSeq Acc Id: | XP_016884731 ⟸ XM_017029242 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQEhide sequence |
| RefSeq Acc Id: | XP_024308099 ⟸ XM_024452331 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKhide sequence |
| RefSeq Acc Id: | NP_001349448 ⟸ NM_001362519 |
| - Peptide Label: | isoform c |
| RefSeq Acc Id: | NP_001349446 ⟸ NM_001362517 |
| - Peptide Label: | isoform c |
| RefSeq Acc Id: | NP_001349447 ⟸ NM_001362518 |
| - Peptide Label: | isoform c |
| RefSeq Acc Id: | ENSP00000484306 ⟸ ENST00000615443 |
| RefSeq Acc Id: | ENSP00000350386 ⟸ ENST00000357749 |
Promoters| RGD ID: | 6808569 | |||||||||
| Promoter ID: | HG_KWN:67404 | |||||||||
| Type: | Non-CpG | |||||||||
| 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: | ENST00000358786, NM_000390, OTTHUMT00000057398, OTTHUMT00000057399, UC004EEU.2 | |||||||||
| Position: |
|
| RGD ID: | 13627566 | |||||||||
| Promoter ID: | EPDNEW_H29058 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CHM_1 | |||||||||
| Description: | CHM, Rab escort protein 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_000390.4(CHM):c.1520A>G (p.His507Arg) | single nucleotide variant | Choroideremia [RCV000033030] | ChrX:85879054 [GRCh38] ChrX:85134059 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| NM_000390.4(CHM):c.808C>T (p.Arg270Ter) | single nucleotide variant | Choroideremia [RCV000132595]|not provided [RCV000519231] | ChrX:85958872 [GRCh38] ChrX:85213877 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| CHM, IVS13DS, INS T, +2 | insertion | Choroideremia, Salla type [RCV000011897]|Choroideremia, salla type [RCV000011897] | ChrX:Xq21.2 | pathogenic |
| NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) | indel | Choroideremia [RCV000011898] | ChrX:85900700..85900701 [GRCh38] ChrX:85155705..85155706 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) | single nucleotide variant | Choroideremia [RCV000011899] | ChrX:85894214 [GRCh38] ChrX:85149219 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) | single nucleotide variant | Choroideremia [RCV000011900] | ChrX:85894227 [GRCh38] ChrX:85149232 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| CHM, 1-BP DEL, GGA146GA, FS159TER | deletion | Choroideremia [RCV000011901] | ChrX:Xq21.2 | pathogenic |
| NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs) | microsatellite | Choroideremia [RCV000011902] | ChrX:85878987..85878990 [GRCh38] ChrX:85133992..85133995 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) | single nucleotide variant | Choroideremia [RCV000011903] | ChrX:85894201 [GRCh38] ChrX:85149206 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.877C>T (p.Arg293Ter) | single nucleotide variant | Choroideremia [RCV000011904]|not provided [RCV000078687] | ChrX:85957918 [GRCh38] ChrX:85212923 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| CHM, L1 INS | insertion | Choroideremia [RCV000011906] | ChrX:Xq21.2 | pathogenic |
| NM_000390.4(CHM):c.1609+2T>A | single nucleotide variant | not provided [RCV000520979] | ChrX:85878963 [GRCh38] ChrX:85133968 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.2(CHM):c.1167-282T>G | single nucleotide variant | Lung cancer [RCV000102856] | ChrX:85911620 [GRCh38] ChrX:85166625 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
| NM_000390.4(CHM):c.1609+2dup | duplication | Choroideremia [RCV000049636] | ChrX:85878962..85878963 [GRCh38] ChrX:85133967..85133968 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | Ventricular septal defect [RCV000050889]|See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1 | copy number loss | Sensorineural hearing loss [RCV000050772]|See cases [RCV000050772] | ChrX:79372269..91308122 [GRCh38] ChrX:78627766..90563121 [GRCh37] ChrX:78514422..90449777 [NCBI36] ChrX:Xq21.1-21.31 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | Coarse facial features [RCV000050699]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|Postaxial polydactyly A5 [RCV000050698]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 | copy number loss | Global developmental delay [RCV000051665]|See cases [RCV000051665] | ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 | copy number loss | Global developmental delay [RCV000051666]|See cases [RCV000051666] | ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051707]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051707]|See cases [RCV000051707] | ChrX:81762602..86457999 [GRCh38] ChrX:81018101..85713002 [GRCh37] ChrX:80904757..85599658 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 | copy number loss | Global developmental delay [RCV000051709]|See cases [RCV000051709] | ChrX:81765008..86444979 [GRCh38] ChrX:81020507..85699982 [GRCh37] ChrX:80907163..85586638 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
| GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051668]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051668]|See cases [RCV000051668] | ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051670]|See cases [RCV000051670] | ChrX:80329330..86150446 [GRCh38] ChrX:79584829..85405450 [GRCh37] ChrX:79471485..85292106 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 | copy number loss | Hearing impairment [RCV000051673]|See cases [RCV000051673] | ChrX:81762601..86471468 [GRCh38] ChrX:81018100..85726471 [GRCh37] ChrX:80904756..85613127 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | Hypertelorism [RCV000052324]|See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] | ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | Obesity [RCV000052322]|See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052438]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052438]|See cases [RCV000052438] | ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 | copy number loss | Global developmental delay [RCV000053005]|See cases [RCV000053005] | ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) | single nucleotide variant | not provided [RCV000171441] | ChrX:85956175 [GRCh38] ChrX:85211180 [GRCh37] ChrX:Xq21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 | copy number loss | See cases [RCV000133792] | ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 | copy number gain | See cases [RCV000133744] | ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 | copy number gain | See cases [RCV000134564] | ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 | copy number loss | See cases [RCV000134570] | ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 | copy number gain | See cases [RCV000134025] | ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 | copy number loss | See cases [RCV000135300] | ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 | copy number loss | See cases [RCV000135306] | ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1 | copy number loss | See cases [RCV000135328] | ChrX:81930916..85965282 [GRCh38] ChrX:81186415..85220287 [GRCh37] ChrX:81073071..85106943 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 | copy number loss | See cases [RCV000134958] | ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 | copy number loss | See cases [RCV000135454] | ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 | copy number loss | See cases [RCV000136005] | ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) | copy number loss | See cases [RCV000136094] | ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 | copy number loss | See cases [RCV000136083] | ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 | copy number loss | See cases [RCV000137113] | ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 | copy number gain | See cases [RCV000136841] | ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 | copy number gain | See cases [RCV000136791] | ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 | copy number gain | See cases [RCV000137553] | ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 | copy number loss | See cases [RCV000137414] | ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
| GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 | copy number loss | See cases [RCV000137138] | ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 | copy number loss | See cases [RCV000137886] | ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 | copy number loss | See cases [RCV000138678] | ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 | copy number loss | See cases [RCV000138787] | ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 | copy number loss | See cases [RCV000139400] | ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 | copy number gain | See cases [RCV000139416] | ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 | copy number loss | See cases [RCV000139352] | ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.31(chrX:85396423-87061496)x3 | copy number gain | See cases [RCV000138988] | ChrX:85396423..87061496 [GRCh38] ChrX:84651428..86316499 [GRCh37] ChrX:84538084..86203155 [NCBI36] ChrX:Xq21.1-21.31 |
likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0 | copy number loss | See cases [RCV000139635] | ChrX:80722314..92152619 [GRCh38] ChrX:79977813..91407618 [GRCh37] ChrX:79864469..91294274 [NCBI36] ChrX:Xq21.1-21.31 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 | copy number loss | See cases [RCV000141825] | ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) | copy number loss | See cases [RCV000141742] | ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
pathogenic |
| GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 | copy number loss | See cases [RCV000142372] | ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 | copy number loss | See cases [RCV000142337] | ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.2(chrX:85881568-86228805)x3 | copy number gain | See cases [RCV000142232] | ChrX:85881568..86228805 [GRCh38] ChrX:85136573..85483808 [GRCh37] ChrX:85023229..85370464 [NCBI36] ChrX:Xq21.2 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 | copy number gain | See cases [RCV000142134] | ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
| GRCh38/hg38 Xq21.1-21.2(chrX:85089622-85949735)x2 | copy number gain | See cases [RCV000143106] | ChrX:85089622..85949735 [GRCh38] ChrX:84344628..85204740 [GRCh37] ChrX:84231284..85091396 [NCBI36] ChrX:Xq21.1-21.2 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 | copy number loss | See cases [RCV000143424] | ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 | copy number loss | See cases [RCV000143349] | ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | copy number loss | See cases [RCV000143441] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 | copy number loss | See cases [RCV000143132] | ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.116+1G>A | single nucleotide variant | Choroideremia [RCV000169622] | ChrX:86027490 [GRCh38] ChrX:85282494 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| NM_000390.4(CHM):c.957A>G (p.Thr319=) | single nucleotide variant | not specified [RCV000180152] | ChrX:85956362 [GRCh38] ChrX:85211367 [GRCh37] ChrX:Xq21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 | copy number gain | See cases [RCV000240143] | ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.715C>T (p.Arg239Ter) | single nucleotide variant | Choroideremia [RCV000302207]|Choroideremia [RCV000763635] | ChrX:85958965 [GRCh38] ChrX:85213970 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) | single nucleotide variant | not provided [RCV000578632] | ChrX:85911287 [GRCh38] ChrX:85166292 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.116+1G>T | single nucleotide variant | not provided [RCV000354112] | ChrX:86027490 [GRCh38] ChrX:85282494 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NC_000023.10:g.36649710_136649711del100000002insG | indel | Heterotaxy, visceral, X-linked [RCV000754886] | ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 | copy number gain | See cases [RCV000240148] | ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.351A>G (p.Ala117=) | single nucleotide variant | not specified [RCV000247183] | ChrX:85964016 [GRCh38] ChrX:85219021 [GRCh37] ChrX:Xq21.2 |
benign |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.1138C>T (p.Gln380Ter) | single nucleotide variant | not provided [RCV000285432] | ChrX:85956181 [GRCh38] ChrX:85211186 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1488G>A (p.Thr496=) | single nucleotide variant | not provided [RCV000872533]|not specified [RCV000376529] | ChrX:85894210 [GRCh38] ChrX:85149215 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.49+1G>T | single nucleotide variant | not provided [RCV000313760] | ChrX:86047483 [GRCh38] ChrX:85302487 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.3(CHM):c.315_318delTCAG (p.Ser105Argfs) | deletion | not provided [RCV000319155] | ChrX:85964049..85964052 [GRCh38] ChrX:85219054..85219057 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.799C>T (p.Arg267Ter) | single nucleotide variant | not provided [RCV000320612] | ChrX:85958881 [GRCh38] ChrX:85213886 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1244+8T>A | single nucleotide variant | not specified [RCV000389318] | ChrX:85911253 [GRCh38] ChrX:85166258 [GRCh37] ChrX:Xq21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000390.4(CHM):c.525_526del (p.Glu177fs) | deletion | not provided [RCV000355316] | ChrX:85963841..85963842 [GRCh38] ChrX:85218846..85218847 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1100G>T (p.Arg367Leu) | single nucleotide variant | not specified [RCV000355549] | ChrX:85956219 [GRCh38] ChrX:85211224 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.645_648TACT[1] (p.Tyr217fs) | microsatellite | Choroideremia [RCV000374975] | ChrX:85963715..85963718 [GRCh38] ChrX:85218720..85218723 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.969T>A (p.Tyr323Ter) | single nucleotide variant | not provided [RCV000379861] | ChrX:85956350 [GRCh38] ChrX:85211355 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.117-7G>T | single nucleotide variant | not specified [RCV000328889] | ChrX:85981816 [GRCh38] ChrX:85236820 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
| NM_000390.4(CHM):c.189+5A>G | single nucleotide variant | Choroideremia [RCV000408835] | ChrX:85981732 [GRCh38] ChrX:85236736 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
| NM_000390.4(CHM):c.130G>T (p.Gly44Ter) | single nucleotide variant | not provided [RCV000259262] | ChrX:85981796 [GRCh38] ChrX:85236800 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.757C>T (p.Arg253Ter) | single nucleotide variant | Retinitis pigmentosa [RCV000787565]|not provided [RCV000265578] | ChrX:85958923 [GRCh38] ChrX:85213928 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.315-4564C>G | single nucleotide variant | not provided [RCV000488021] | ChrX:85968616 [GRCh38] ChrX:85223621 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
| GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 | copy number gain | not provided [RCV000488046] | ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
| NM_000390.4(CHM):c.280del (p.Thr94fs) | deletion | Choroideremia [RCV000625730] | ChrX:85978801 [GRCh38] ChrX:85233805 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1771-8T>C | single nucleotide variant | not specified [RCV000592998] | ChrX:85864829 [GRCh38] ChrX:85119834 [GRCh37] ChrX:Xq21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000390.4(CHM):c.434C>T (p.Ser145Leu) | single nucleotide variant | not specified [RCV000593740] | ChrX:85963933 [GRCh38] ChrX:85218938 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
| NM_000390.4(CHM):c.311C>G (p.Ala104Gly) | single nucleotide variant | not provided [RCV000875812]|not specified [RCV000591547] | ChrX:85978770 [GRCh38] ChrX:85233774 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1019C>A (p.Ser340Ter) | single nucleotide variant | not provided [RCV000414588] | ChrX:85956300 [GRCh38] ChrX:85211305 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del | deletion | Retinal dystrophy [RCV000416295] | ChrX:Xq21.2 | likely pathogenic |
| NM_000390.4(CHM):c.1437dup (p.Glu480fs) | duplication | not provided [RCV000412929] | ChrX:85894260..85894261 [GRCh38] ChrX:85149265..85149266 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1A>G (p.Met1Val) | single nucleotide variant | Choroideremia [RCV000412301] | ChrX:86047532 [GRCh38] ChrX:85302536 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| NM_000390.4(CHM):c.1213C>T (p.Gln405Ter) | single nucleotide variant | not provided [RCV000413451] | ChrX:85911292 [GRCh38] ChrX:85166297 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1342C>T (p.Gln448Ter) | single nucleotide variant | not provided [RCV000414063] | ChrX:85901091 [GRCh38] ChrX:85156096 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.1771-1G>A | single nucleotide variant | not provided [RCV000522740] | ChrX:85864822 [GRCh38] ChrX:85119827 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 | copy number loss | See cases [RCV000447490] | ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 | copy number gain | See cases [RCV000446151] | ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 | copy number gain | See cases [RCV000446471] | ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.265A>T (p.Ser89Cys) | single nucleotide variant | not specified [RCV000441588] | ChrX:85978816 [GRCh38] ChrX:85233820 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1100G>A (p.Arg367Gln) | single nucleotide variant | not provided [RCV000946242]|not specified [RCV000442531] | ChrX:85956219 [GRCh38] ChrX:85211224 [GRCh37] ChrX:Xq21.2 |
benign|likely benign |
| NM_000390.4(CHM):c.49+5G>A | single nucleotide variant | not provided [RCV000419936] | ChrX:86047479 [GRCh38] ChrX:85302483 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| NM_000390.4(CHM):c.1334C>G (p.Ser445Ter) | single nucleotide variant | not provided [RCV000431379] | ChrX:85901099 [GRCh38] ChrX:85156104 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.133G>T (p.Gly45Ter) | single nucleotide variant | not provided [RCV000435190] | ChrX:85981793 [GRCh38] ChrX:85236797 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.315-4441G>C | single nucleotide variant | not specified [RCV000426695] | ChrX:85968493 [GRCh38] ChrX:85223498 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.315-1536A>G | single nucleotide variant | Abnormality of the eye [RCV000504914]|Retinal dystrophy [RCV000504724] | ChrX:85965588 [GRCh38] ChrX:85220593 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 | copy number gain | See cases [RCV000448034] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 | copy number gain | See cases [RCV000448394] | ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 | copy number loss | See cases [RCV000448870] | ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.41dup (p.Gly15fs) | duplication | not provided [RCV000485407] | ChrX:86047491..86047492 [GRCh38] ChrX:85302495..85302496 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.866_867dup (p.Val290fs) | duplication | not provided [RCV000498941] | ChrX:85957927..85957928 [GRCh38] ChrX:85212932..85212933 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 | copy number loss | See cases [RCV000510419] | ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 | copy number loss | See cases [RCV000511413] | ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
| GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 | copy number loss | See cases [RCV000512026] | ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 | copy number loss | See cases [RCV000511482] | ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 | copy number loss | See cases [RCV000510820] | ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) | copy number loss | See cases [RCV000510947] | ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 | copy number gain | See cases [RCV000510826] | ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| NM_000390.4(CHM):c.820-2A>G | single nucleotide variant | Choroideremia [RCV000990895]|not provided [RCV000521080] | ChrX:85957977 [GRCh38] ChrX:85212982 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1413G>A (p.Gln471=) | single nucleotide variant | not provided [RCV000585239] | ChrX:85900646 [GRCh38] ChrX:85155651 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| NM_000390.4(CHM):c.75_77del (p.Ala26del) | deletion | Chorioretinal atrophy [RCV000626681] | ChrX:86027530..86027532 [GRCh38] ChrX:85282534..85282536 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 | copy number gain | See cases [RCV000512173] | ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| NM_000390.4(CHM):c.1680del (p.Ser561fs) | deletion | not provided [RCV000658379] | ChrX:85873142 [GRCh38] ChrX:85128147 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 | copy number gain | not provided [RCV000684261] | ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
| GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 | copy number loss | not provided [RCV000753606] | ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.2-21.31(chrX:85271998-86201736)x3 | copy number gain | not provided [RCV000753636] | ChrX:85271998..86201736 [GRCh37] ChrX:Xq21.2-21.31 |
benign |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| Single allele | duplication | Autistic disorder of childhood onset [RCV000754365] | ChrX:1..156040895 [GRCh38] | pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.8A>G (p.Asp3Gly) | single nucleotide variant | not provided [RCV000874935] | ChrX:86047525 [GRCh38] ChrX:85302529 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1437A>G (p.Ala479=) | single nucleotide variant | not provided [RCV000937536] | ChrX:85894261 [GRCh38] ChrX:85149266 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.660del (p.Ile221fs) | deletion | Choroideremia [RCV000787024] | ChrX:85963707 [GRCh38] ChrX:85218712 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.3G>A (p.Met1Ile) | single nucleotide variant | Retinitis pigmentosa [RCV000787564] | ChrX:86047530 [GRCh38] ChrX:85302534 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| NM_000390.4(CHM):c.591T>C (p.Ser197=) | single nucleotide variant | not provided [RCV000942709] | ChrX:85963776 [GRCh38] ChrX:85218781 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.582A>G (p.Glu194=) | single nucleotide variant | not provided [RCV000969806] | ChrX:85963785 [GRCh38] ChrX:85218790 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.18T>A (p.Pro6=) | single nucleotide variant | not provided [RCV000943174] | ChrX:86047515 [GRCh38] ChrX:85302519 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.483C>T (p.Ser161=) | single nucleotide variant | not provided [RCV000892238] | ChrX:85963884 [GRCh38] ChrX:85218889 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1713C>T (p.Asn571=) | single nucleotide variant | not provided [RCV000946265] | ChrX:85873109 [GRCh38] ChrX:85128114 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1245-8_1245-6del | microsatellite | not provided [RCV000878243] | ChrX:85901194..85901196 [GRCh38] ChrX:85156199..85156201 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1349+10C>T | single nucleotide variant | not provided [RCV000871485] | ChrX:85901074 [GRCh38] ChrX:85156079 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1255A>G (p.Ile419Val) | single nucleotide variant | not provided [RCV000878591] | ChrX:85901178 [GRCh38] ChrX:85156183 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1377A>T (p.Thr459=) | single nucleotide variant | not provided [RCV000995983] | ChrX:85900682 [GRCh38] ChrX:85155687 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.22G>T (p.Glu8Ter) | single nucleotide variant | Choroideremia [RCV000787004] | ChrX:86047511 [GRCh38] ChrX:85302515 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_000390.4(CHM):c.6G>T (p.Ala2=) | single nucleotide variant | not provided [RCV000941606] | ChrX:86047527 [GRCh38] ChrX:85302531 [GRCh37] ChrX:Xq21.2 |
likely benign |
| Single allele | duplication | MECP2 duplication syndrome [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| NM_000390.4(CHM):c.702+7A>G | single nucleotide variant | not provided [RCV000979512] | ChrX:85963658 [GRCh38] ChrX:85218663 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.1332C>T (p.Cys444=) | single nucleotide variant | not provided [RCV000943891] | ChrX:85901101 [GRCh38] ChrX:85156106 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.1802A>G (p.Asn601Ser) | single nucleotide variant | not provided [RCV000865525] | ChrX:85864790 [GRCh38] ChrX:85119795 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1920G>A (p.Lys640=) | single nucleotide variant | not provided [RCV000977627] | ChrX:85864672 [GRCh38] ChrX:85119677 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.1299C>T (p.Leu433=) | single nucleotide variant | not provided [RCV000952156] | ChrX:85901134 [GRCh38] ChrX:85156139 [GRCh37] ChrX:Xq21.2 |
benign |
| NC_000023.11:g.85981821dup | duplication | not provided [RCV000835085] | ChrX:Xq21.2 | benign |
| NM_000390.4(CHM):c.162A>G (p.Gly54=) | single nucleotide variant | not provided [RCV000871541] | ChrX:85981764 [GRCh38] ChrX:85236768 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) | single nucleotide variant | Choroideremia [RCV000990892] | ChrX:85873177 [GRCh38] ChrX:85128182 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
| GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 | copy number loss | not provided [RCV000845670] | ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
| NC_000023.10:g.(?_85119615)_(85302556_?)del | deletion | not provided [RCV000807234] | ChrX:85119615..85302556 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) | single nucleotide variant | Choroideremia [RCV000990893] | ChrX:85879001 [GRCh38] ChrX:85134006 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NC_000023.10:g.85296959_85303375inv | inversion | Choroideremia [RCV000787471] | ChrX:85296959..85303375 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| NM_000390.4(CHM):c.1678A>T (p.Ile560Phe) | single nucleotide variant | not provided [RCV000896960] | ChrX:85873144 [GRCh38] ChrX:85128149 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.619A>G (p.Thr207Ala) | single nucleotide variant | not provided [RCV000979375] | ChrX:85963748 [GRCh38] ChrX:85218753 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1782T>C (p.Leu594=) | single nucleotide variant | not provided [RCV000979833] | ChrX:85864810 [GRCh38] ChrX:85119815 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) | duplication | Choroideremia [RCV000990894] | ChrX:85956262..85956263 [GRCh38] ChrX:85211267..85211268 [GRCh37] ChrX:Xq21.2 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 | copy number loss | not provided [RCV000847338] | ChrX:74667077..90312981 [GRCh37] ChrX:Xq13.3-21.31 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 | copy number loss | not provided [RCV000848218] | ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
| NM_000390.4(CHM):c.1380T>C (p.Asp460=) | single nucleotide variant | not provided [RCV000878126] | ChrX:85900679 [GRCh38] ChrX:85155684 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1008T>C (p.Ile336=) | single nucleotide variant | not provided [RCV000874751] | ChrX:85956311 [GRCh38] ChrX:85211316 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1383A>C (p.Arg461Ser) | single nucleotide variant | not provided [RCV000952168] | ChrX:85900676 [GRCh38] ChrX:85155681 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.1641G>T (p.Leu547=) | single nucleotide variant | not provided [RCV000872007] | ChrX:85873181 [GRCh38] ChrX:85128186 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1116A>G (p.Pro372=) | single nucleotide variant | not provided [RCV000887499] | ChrX:85956203 [GRCh38] ChrX:85211208 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.1922_1933dup (p.Leu645_Gly646insGlnSerThrAsn) | duplication | not provided [RCV000887584] | ChrX:85864658..85864659 [GRCh38] ChrX:85119663..85119664 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.1494A>G (p.Thr498=) | single nucleotide variant | not provided [RCV000941585] | ChrX:85894204 [GRCh38] ChrX:85149209 [GRCh37] ChrX:Xq21.2 |
likely benign |
| NM_000390.4(CHM):c.825G>A (p.Pro275=) | single nucleotide variant | not provided [RCV000870871] | ChrX:85957970 [GRCh38] ChrX:85212975 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.190-5T>C | single nucleotide variant | not provided [RCV000979105] | ChrX:85978896 [GRCh38] ChrX:85233900 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.238C>T (p.Leu80Phe) | single nucleotide variant | not provided [RCV000865421] | ChrX:85978843 [GRCh38] ChrX:85233847 [GRCh37] ChrX:Xq21.2 |
benign |
| NM_000390.4(CHM):c.29_30del (p.Asp10fs) | deletion | Choroideremia [RCV000990896] | ChrX:86047503..86047504 [GRCh38] ChrX:85302507..85302508 [GRCh37] ChrX:Xq21.2 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:1940 | AgrOrtholog |
| COSMIC | CHM | COSMIC |
| Ensembl Genes | ENSG00000188419 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000350386 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000484306 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000357749 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000615443 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.50.50.60 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000188419 | GTEx |
| HGNC ID | HGNC:1940 | ENTREZGENE |
| Human Proteome Map | CHM | Human Proteome Map |
| InterPro | FAD/NAD-bd_sf | UniProtKB/Swiss-Prot |
| GDP_dissociation_inhibitor | UniProtKB/Swiss-Prot | |
| Rab_escort | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:1121 | UniProtKB/Swiss-Prot |
| NCBI Gene | 1121 | ENTREZGENE |
| OMIM | 300390 | OMIM |
| 303100 | OMIM | |
| PANTHER | PTHR11787 | UniProtKB/Swiss-Prot |
| Pfam | GDI | UniProtKB/Swiss-Prot |
| PharmGKB | PA26471 | PharmGKB |
| PIRSF | Rab_ger_ger_transf_A_euk | UniProtKB/Swiss-Prot |
| PRINTS | RABESCORT | UniProtKB/Swiss-Prot |
| RABGDIREP | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF51905 | UniProtKB/Swiss-Prot |
| UniGene | Hs.496449 | ENTREZGENE |
| UniProt | A8K545 | ENTREZGENE, UniProtKB/TrEMBL |
| B4DRL9 | ENTREZGENE, UniProtKB/TrEMBL | |
| P24386 | ENTREZGENE | |
| Q8N917_HUMAN | UniProtKB/TrEMBL | |
| RAE1_HUMAN | UniProtKB/Swiss-Prot | |
| UniProt Secondary | A1L4D2 | UniProtKB/Swiss-Prot |
| O43732 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-02-05 | CHM | CHM Rab escort protein | CHM, Rab escort protein 1 | Symbol and/or name change | 5135510 | APPROVED | |
| 2016-02-29 | CHM | CHM, Rab escort protein 1 | choroideremia (Rab escort protein 1) | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-08-16 | CHM | choroideremia (Rab escort protein 1) | CHM | choroideremia (Rab escort protein 1) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on CHM | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 732475 |
| Created: | 2004-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| Status: | ACTIVE |
