 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Analyze GeneStrainQTL List |
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Gene Ontology 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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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for gene-chemical interactions |
| 3. | Tamagnone L, etal., Cell 1999 Oct 1;99(1):71-80. |
References - uncurated| PubMed | 8661155 10574462 12123608 12183458 12421765 15184888 15218527 15790807 16122393 17033634 19329067 19850054 20696765 21706053 21873635 29676528 |
Genomics
Comparative Map Data| PLXNB3 (Homo sapiens - human) |
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| Plxnb3 (Mus musculus - house mouse) |
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| Plxnb3 (Rattus norvegicus - Norway rat) |
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| Plxnb3 (Chinchilla lanigera - long-tailed chinchilla) |
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| PLXNB3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PLXNB3 (Canis lupus familiaris - dog) |
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| Plxnb3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PLXNB3 (Sus scrofa - pig) |
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| PLXNB3 (Chlorocebus sabaeus - African green monkey) |
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| Plxnb3 (Heterocephalus glaber - naked mole-rat) |
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Position Markers| A008P20 |
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| A004O03 |
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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 | 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 | 6 | 1 | 3 | 90 | 10 | 2 | 2 | 54 | 8 | 1 | 2 | 6 | 88 | 1 | 2 | 17 | 5 | 2 | 1 | 5 | 1 | 1 | 10 | 1 | 12 | 25 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 64 | 16 | 2 | 16 | 1 | 1 | 2 | 1 | 16 | 2 | 4 | 2 | 1 | 5 | 1 | 1 | 5 | 1 | 1 | 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Low | 1 | 28 | 1 | 11 | 178 | 4 | 42 | 2 | 86 | 112 | 1 | 20 | 23 | 46 | 19 | 23 | 1 | 1 | 1 | 138 | 36 | 1 | 1 | 1 | 1 | 3 | 3 | 2 | 27 | 3 | 1 | 2 | 1 | 1 | 2 | 29 | 1 | 1 | 1 | 26 | 81 | 1 | 1 | 1 | 1 | 9 | 1 | 1 | 17 | 1 | 1 | 1 | 10 | 2 | 27 | 205 | 1 | 2 | 89 | 3 | 1 | 101 | 2 | 1 | 1 | 1 | 1 | 1 | 13 | 3 | 5 | 2 | 30 | 2 | 26 | 1 | 1 | 38 | 1 | 1 | 4 | 1 | 1 | 1 | 1 | 1 | ||||||||||||||||||||||||||||||
| Below cutoff | 5 | 3 | 34 | 7 | 32 | 402 | 4 | 1 | 3 | 17 | 6 | 23 | 11 | 1 | 4 | 1 | 8 | 1 | 6 | 1 | 1 | 1 | 2 | 28 | 37 | 1 | 119 | 1 | 131 | 1 | 2 | 2 | 29 | 11 | 1 | 1 |
View RNA-SEQ Expression Data
Sequence
Nucleotide Sequences| RefSeq Transcripts | NG_013255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001163257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_005393 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB033032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF149019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK292535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK295762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK295849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK295894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK296538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK304705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK307894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY927551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF459513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF459516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U52111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | ENST00000361971 ⟹ ENSP00000355378 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000411613 ⟹ ENSP00000391650 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000448847 ⟹ ENSP00000412454 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000455214 ⟹ ENSP00000396048 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000469190 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000472415 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000482654 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000485980 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000538966 ⟹ ENSP00000442736 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001163257 ⟹ NP_001156729 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATGAGTCGGACTGGGCACGATTGCATTGTGGGGAGGGAGGCTGGGGCTCTGTGAGACGTGCTChide sequence |
| RefSeq Acc Id: | NM_005393 ⟹ NP_005384 | |||||||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATGAGTCGGACTGGGCACGATTGCATTGTGGGGAGGGAGGCTGGGGCTCTGTGAGACGTGCTChide sequence |
Protein Sequences| Protein RefSeqs | NP_001156729 | (Get FASTA) | NCBI Sequence Viewer |
| NP_005384 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAG01376 | (Get FASTA) | NCBI Sequence Viewer |
| BAA86520 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF85224 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12182 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12202 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12215 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12382 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH14241 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW72815 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9ULL4 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_005384 ⟸ NM_005393 |
| - Peptide Label: | isoform 1 precursor |
| - UniProtKB: | Q9ULL4 (UniProtKB/Swiss-Prot), A8K920 (UniProtKB/TrEMBL) |
| - Sequence: |
MCHAAQETPLLHHFMAPVMARWPPFGLCLLLLLLSPPPLPLTGAHRFSAPNTTLNHLALAPGRGhide sequence |
| RefSeq Acc Id: | NP_001156729 ⟸ NM_001163257 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q9ULL4 (UniProtKB/Swiss-Prot), A8K920 (UniProtKB/TrEMBL) |
| - Sequence: |
MELTPASSLTCSLLSPRLPGSFPQLRRVPPCSRPWLPKAPVMARWPPFGLCLLLLLLSPPPLPLhide sequence |
| RefSeq Acc Id: | ENSP00000391650 ⟸ ENST00000411613 |
| RefSeq Acc Id: | ENSP00000355378 ⟸ ENST00000361971 |
| RefSeq Acc Id: | ENSP00000396048 ⟸ ENST00000455214 |
| RefSeq Acc Id: | ENSP00000442736 ⟸ ENST00000538966 |
| RefSeq Acc Id: | ENSP00000412454 ⟸ ENST00000448847 |
Protein Domains
IPT/TIG Plexin_cytopl PSI Sema
Promoters| RGD ID: | 6809151 | |||||||||
| Promoter ID: | HG_KWN:68556 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid | |||||||||
| Transcripts: | NM_001163257, UC004FII.1, UC010NUK.1 | |||||||||
| Position: |
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| RGD ID: | 6809150 | |||||||||
| Promoter ID: | HG_KWN:68558 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3 | |||||||||
| Transcripts: | OTTHUMT00000061067, OTTHUMT00000061070, UC004FIJ.1 | |||||||||
| Position: |
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| RGD ID: | 6809288 | |||||||||
| Promoter ID: | HG_KWN:68559 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3, Jurkat | |||||||||
| Transcripts: | OTTHUMT00000061065, UC004FIK.1 | |||||||||
| Position: |
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| RGD ID: | 6809137 | |||||||||
| Promoter ID: | HG_KWN:68560 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | OTTHUMT00000061064, OTTHUMT00000061066 | |||||||||
| Position: |
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| RGD ID: | 6809136 | |||||||||
| Promoter ID: | HG_KWN:68561 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000061068, OTTHUMT00000061069 | |||||||||
| Position: |
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| RGD ID: | 13628516 | |||||||||
| Promoter ID: | EPDNEW_H29496 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PLXNB3_1 | |||||||||
| Description: | plexin B3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H29497 EPDNEW_H29499 EPDNEW_H29500 EPDNEW_H29501 EPDNEW_H29502 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 13628518 | |||||||||
| Promoter ID: | EPDNEW_H29497 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PLXNB3_2 | |||||||||
| Description: | plexin B3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H29496 EPDNEW_H29499 EPDNEW_H29500 EPDNEW_H29501 EPDNEW_H29502 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 13628522 | |||||||||
| Promoter ID: | EPDNEW_H29499 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PLXNB3_4 | |||||||||
| Description: | plexin B3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H29496 EPDNEW_H29497 EPDNEW_H29500 EPDNEW_H29501 EPDNEW_H29502 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 13628524 | |||||||||
| Promoter ID: | EPDNEW_H29500 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PLXNB3_3 | |||||||||
| Description: | plexin B3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H29496 EPDNEW_H29497 EPDNEW_H29499 EPDNEW_H29501 EPDNEW_H29502 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 13628526 | |||||||||
| Promoter ID: | EPDNEW_H29501 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PLXNB3_6 | |||||||||
| Description: | plexin B3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H29496 EPDNEW_H29497 EPDNEW_H29499 EPDNEW_H29500 EPDNEW_H29502 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 13628528 | |||||||||
| Promoter ID: | EPDNEW_H29502 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PLXNB3_5 | |||||||||
| Description: | plexin B3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H29496 EPDNEW_H29497 EPDNEW_H29499 EPDNEW_H29500 EPDNEW_H29501 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| 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 Xq28(chrX:150036146-156022206)x3 | copy number gain | Expressive language delay [RCV000050946]|See cases [RCV000050946] | ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28 |
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 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 Xq28(chrX:149989929-156022206)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050657]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050657]|See cases [RCV000050657] | ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
| 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 Xq23-28(chrX:115417992-156022206)x1 | copy number loss | Global developmental delay [RCV000051160]|See cases [RCV000051160] | ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] | ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051750]|See cases [RCV000051750] | ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153667032-153817949)x0 | copy number loss | Macrotia [RCV000051751]|See cases [RCV000051751] | ChrX:153667032..153817949 [GRCh38] ChrX:152585681..152736598 [NCBI36] ChrX:Xq28 |
pathogenic |
| 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 Xq23-28(chrX:116264813-155980575)x1 | copy number loss | Specific learning disability [RCV000051728]|See cases [RCV000051728] | ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051729]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051729]|See cases [RCV000051729] | ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 | copy number loss | Global developmental delay [RCV000051713]|See cases [RCV000051713] | ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 | copy number loss | Nonsyndromic microcephaly [RCV000051732]|See cases [RCV000051732] | ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] | ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
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 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 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: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 Xq28(chrX:153722500-154367160)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] | ChrX:153722500..154367160 [GRCh38] ChrX:152641149..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 | copy number gain | Global developmental delay [RCV000052525]|Macrocephaly [RCV000052526]|See cases [RCV000052525] | ChrX:153769547..154394658 [GRCh38] ChrX:152688196..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052527]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052527]|See cases [RCV000052527] | ChrX:153777340..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152695989..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] | ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 | copy number gain | Global developmental delay [RCV000052491]|See cases [RCV000052491] | ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052492]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052492]|See cases [RCV000052492] | ChrX:153504314..154144797 [GRCh38] ChrX:152422966..153063464 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 | copy number gain | Global developmental delay [RCV000052445]|See cases [RCV000052445] | ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052471]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052471]|See cases [RCV000052471] | ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052474]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052474]|See cases [RCV000052474] | ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052475]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052475]|See cases [RCV000052475] | ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] | ChrX:153585420..154427385 [GRCh38] ChrX:152864376..153655730 [GRCh37] ChrX:152504072..153308924 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 | copy number gain | Epicanthus [RCV000052522]|See cases [RCV000052522] | ChrX:153590730..154380801 [GRCh38] ChrX:152864376..153609161 [GRCh37] ChrX:152509382..153262355 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052523]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052523]|See cases [RCV000052523] | ChrX:153714542..154380803 [GRCh38] ChrX:152633191..153262357 [NCBI36] ChrX:Xq28 |
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-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 |
| GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 | copy number loss | See cases [RCV000133818] | ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| 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 Xq27.3-28(chrX:144627217-155434735)x3 | copy number gain | See cases [RCV000133725] | ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28 |
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 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 |
| 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 Xq21.31-28(chrX:92222680-156016920)x1 | copy number loss | See cases [RCV000135307] | ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
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 Xq23-28(chrX:114533139-156022206)x1 | copy number loss | See cases [RCV000134947] | ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
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 Xq28(chrX:153296806-154604471)x2 | copy number gain | See cases [RCV000135451] | ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28 |
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 Xq21.33-28(chrX:94462929-156001635)x3 | copy number gain | See cases [RCV000136552] | ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
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 Xq23-28(chrX:111745722-154555423)x3 | copy number gain | See cases [RCV000136030] | ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
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 Xq25-28(chrX:128473235-156003229)x1 | copy number loss | See cases [RCV000136095] | ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 | copy number gain | See cases [RCV000135881] | ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
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 Xq27.2-28(chrX:141650284-156022206)x1 | copy number loss | See cases [RCV000136912] | ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28 |
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 Xq28(chrX:153322656-155522304)x2 | copy number gain | See cases [RCV000136716] | ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28 |
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 Xq28(chrX:151750863-155522304)x1 | copy number loss | See cases [RCV000136718] | ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 | copy number gain | See cases [RCV000137498] | ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 | copy number gain | See cases [RCV000137536] | ChrX:153667032..154394658 [GRCh38] ChrX:152585681..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 | copy number loss | See cases [RCV000137415] | ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
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 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 Xq26.3-28(chrX:137118983-156003242)x1 | copy number loss | See cases [RCV000137257] | ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 | copy number loss | See cases [RCV000137167] | ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 | copy number gain | See cases [RCV000138020] | ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 | copy number loss | See cases [RCV000137887] | ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 | copy number loss | See cases [RCV000138679] | ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28 |
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 Xq28(chrX:153727116-154555423)x2 | copy number gain | See cases [RCV000138393] | ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 | copy number loss | See cases [RCV000138541] | ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
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 Xq21.31-28(chrX:88339926-156003242)x1 | copy number loss | See cases [RCV000139351] | ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
| 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-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 Xq28(chrX:153451351-154230630)x2 | copy number gain | See cases [RCV000140532] | ChrX:153451351..154230630 [GRCh38] ChrX:152716809..153496099 [GRCh37] ChrX:152370003..153149293 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 | copy number loss | See cases [RCV000139724] | ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
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 Xq21.31-28(chrX:89557622-156004066)x1 | copy number loss | See cases [RCV000142016] | ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 | copy number loss | See cases [RCV000141743] | ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28 |
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 Xq24-28(chrX:118856574-156004066)x1 | copy number loss | See cases [RCV000142137] | ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 | copy number loss | See cases [RCV000142037] | ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 | copy number gain | See cases [RCV000142157] | ChrX:153392250..153934599 [GRCh38] ChrX:152657708..153200052 [GRCh37] ChrX:152310902..152853246 [NCBI36] ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 | copy number loss | See cases [RCV000142190] | ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 | copy number gain | See cases [RCV000143002] | ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 | copy number loss | See cases [RCV000142577] | ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| 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 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 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: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 |
| 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 |
| 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 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:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
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: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 Xq28(chrX:152912867-153236360)x2 | copy number gain | See cases [RCV000239969] | ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-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 |
| 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:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152925866-153032459)x2 | copy number gain | See cases [RCV000240069] | ChrX:152925866..153032459 [GRCh37] ChrX:Xq28 |
uncertain significance |
| 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 Xq28(chrX:152993910-153555804)x2 | copy number gain | See cases [RCV000240396] | ChrX:152993910..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
| 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:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [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 Xq27.3-28(chrX:142174780-155250222)x2 | copy number gain | See cases [RCV000240530] | ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 | copy number loss | See cases [RCV000240337] | ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
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 |
| Single allele | duplication | MECP2 duplication syndrome [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
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:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 | copy number loss | See cases [RCV000449365] | ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
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:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
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 |
| 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 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 | copy number gain | See cases [RCV000447331] | ChrX:152228560..154930047 [GRCh37] ChrX:Xq28 |
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 Xq28(chrX:152970475-153524157)x2 | copy number gain | See cases [RCV000447506] | ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
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:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152969516-153044721)x3 | copy number gain | See cases [RCV000447135] | ChrX:152969516..153044721 [GRCh37] ChrX:Xq28 |
likely benign |
| 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 Xq28(chrX:150253008-155233731)x1 | copy number loss | See cases [RCV000446761] | ChrX:150253008..155233731 [GRCh37] ChrX:Xq28 |
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:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 | copy number loss | See cases [RCV000445891] | ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 | copy number gain | See cases [RCV000448796] | ChrX:152886474..153368990 [GRCh37] ChrX:Xq28 |
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 |
| GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 | copy number loss | See cases [RCV000448724] | ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28 |
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 Xq26.3-28(chrX:134114063-155233731)x1 | copy number loss | See cases [RCV000448865] | ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
| NM_005393.3(PLXNB3):c.1009G>C (p.Gly337Arg) | single nucleotide variant | not specified [RCV000498811] | ChrX:153767836 [GRCh38] ChrX:153033291 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 | copy number gain | See cases [RCV000510478] | ChrX:151201777..154741703 [GRCh37] ChrX:Xq28 |
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 Xp21.2-q28(chrX:31088082-155233731)x1 | copy number loss | See cases [RCV000511413] | ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
| GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 | copy number loss | See cases [RCV000511572] | ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 | copy number loss | See cases [RCV000511936] | ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
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 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 | copy number loss | See cases [RCV000511490] | ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
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 Xq27.3-28(chrX:146232592-155233731)x1 | copy number loss | See cases [RCV000511228] | ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152559822-153104847)x3 | copy number gain | See cases [RCV000511269] | ChrX:152559822..153104847 [GRCh37] ChrX:Xq28 |
uncertain significance |
| 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 Xq28(chrX:151963528-155233731)x1 | copy number loss | See cases [RCV000510866] | ChrX:151963528..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 | copy number loss | See cases [RCV000510920] | ChrX:151311551..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 | copy number gain | See cases [RCV000511034] | ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
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 |
| GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 | copy number gain | See cases [RCV000512403] | ChrX:152899437..153624564 [GRCh37] ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 | copy number loss | See cases [RCV000512372] | ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
| NM_005393.3(PLXNB3):c.3745G>A (p.Ala1249Thr) | single nucleotide variant | not provided [RCV000512712] | ChrX:153774486 [GRCh38] ChrX:153039941 [GRCh37] ChrX:Xq28 |
uncertain significance |
| Single allele | duplication | not provided [RCV000677999] | ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 | copy number loss | not provided [RCV000684386] | ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 | copy number loss | not provided [RCV000684397] | ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 | copy number loss | not provided [RCV000684401] | ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 | copy number gain | not provided [RCV000684402] | ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 | copy number loss | not provided [RCV000684373] | ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 | copy number loss | not provided [RCV000684357] | ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 | copy number loss | not provided [RCV000684363] | ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 | copy number gain | not provided [RCV000684736] | ChrX:152398094..153176959 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 | copy number gain | not provided [RCV000684738] | ChrX:152628304..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 | copy number gain | not provided [RCV000684739] | ChrX:152941302..153438781 [GRCh37] ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xq28(chrX:153012011-153064295)x1 | copy number loss | not provided [RCV000684740] | ChrX:153012011..153064295 [GRCh37] ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_152954010)_(153599633_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] | ChrX:152954010..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
| NM_005393.3(PLXNB3):c.3005G>A (p.Arg1002His) | single nucleotide variant | not provided [RCV000709843] | ChrX:153773328 [GRCh38] ChrX:153038783 [GRCh37] ChrX:Xq28 |
not provided |
| GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 | copy number loss | not provided [RCV000753810] | ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 | copy number gain | not provided [RCV000753922] | ChrX:152806628..153626649 [GRCh37] ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153020247-153041544)x0 | copy number loss | not provided [RCV000753925] | ChrX:153020247..153041544 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:153032538-153041544)x1 | copy number loss | not provided [RCV000753926] | ChrX:153032538..153041544 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:153032658-153039695)x0 | copy number loss | not provided [RCV000753927] | ChrX:153032658..153039695 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:153032658-153040415)x0 | copy number loss | not provided [RCV000753928] | ChrX:153032658..153040415 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:153035798-153049739)x3 | copy number gain | not provided [RCV000753929] | ChrX:153035798..153049739 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 | copy number loss | not provided [RCV000753815] | ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
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 |
| 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:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | 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 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| Single allele | duplication | Autistic disorder of childhood onset [RCV000754365] | ChrX:1..156040895 [GRCh38] | 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 |
| NM_005393.3(PLXNB3):c.1519G>A (p.Gly507Arg) | single nucleotide variant | not provided [RCV000964158] | ChrX:153769829 [GRCh38] ChrX:153035284 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.2348-4del | deletion | not provided [RCV000881607] | ChrX:153771480 [GRCh38] ChrX:153036935 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.83G>A (p.Cys28Tyr) | single nucleotide variant | not provided [RCV000967615] | ChrX:153766910 [GRCh38] ChrX:153032365 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.480C>T (p.Asp160=) | single nucleotide variant | not provided [RCV000966122] | ChrX:153767307 [GRCh38] ChrX:153032762 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.417G>A (p.Val139=) | single nucleotide variant | not provided [RCV000966121] | ChrX:153767244 [GRCh38] ChrX:153032699 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.1618G>A (p.Glu540Lys) | single nucleotide variant | not provided [RCV000943132] | ChrX:153769928 [GRCh38] ChrX:153035383 [GRCh37] ChrX:Xq28 |
likely benign |
| NM_005393.3(PLXNB3):c.2802T>C (p.Pro934=) | single nucleotide variant | not provided [RCV000915795] | ChrX:153772912 [GRCh38] ChrX:153038367 [GRCh37] ChrX:Xq28 |
likely benign |
| NM_005393.3(PLXNB3):c.1A>G (p.Met1Val) | single nucleotide variant | not provided [RCV000900405] | ChrX:153765536 [GRCh38] ChrX:153030991 [GRCh37] ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) | copy number gain | not provided [RCV000767679] | ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 | copy number loss | not provided [RCV000846958] | ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
| NM_005393.3(PLXNB3):c.2378C>T (p.Pro793Leu) | single nucleotide variant | not provided [RCV000970525] | ChrX:153771516 [GRCh38] ChrX:153036971 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.3819C>A (p.Thr1273=) | single nucleotide variant | not provided [RCV000895593] | ChrX:153774560 [GRCh38] ChrX:153040015 [GRCh37] ChrX:Xq28 |
likely benign |
| NM_005393.3(PLXNB3):c.2337T>C (p.His779=) | single nucleotide variant | not provided [RCV000879485] | ChrX:153771393 [GRCh38] ChrX:153036848 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.4184G>A (p.Ser1395Asn) | single nucleotide variant | not provided [RCV000879486] | ChrX:153775253 [GRCh38] ChrX:153040708 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.2925G>A (p.Pro975=) | single nucleotide variant | not provided [RCV000920752] | ChrX:153773248 [GRCh38] ChrX:153038703 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.1467G>A (p.Pro489=) | single nucleotide variant | not provided [RCV000969767] | ChrX:153769233 [GRCh38] ChrX:153034688 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.1599G>A (p.Pro533=) | single nucleotide variant | not provided [RCV000897876] | ChrX:153769909 [GRCh38] ChrX:153035364 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.1887G>A (p.Ala629=) | single nucleotide variant | not provided [RCV000961852] | ChrX:153770438 [GRCh38] ChrX:153035893 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.2137-9C>T | single nucleotide variant | not provided [RCV000918748] | ChrX:153770956 [GRCh38] ChrX:153036411 [GRCh37] ChrX:Xq28 |
likely benign |
| NM_005393.3(PLXNB3):c.720C>T (p.Asp240=) | single nucleotide variant | not provided [RCV000895221] | ChrX:153767547 [GRCh38] ChrX:153033002 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:152980470-153032459) | copy number loss | Adrenoleukodystrophy [RCV000767810] | ChrX:152980470..153032459 [GRCh37] ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_152990712)_(153650075_?)del | deletion | Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] | ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
pathogenic |
| NM_005393.3(PLXNB3):c.5010C>T (p.Ala1670=) | single nucleotide variant | not provided [RCV000915950] | ChrX:153777290 [GRCh38] ChrX:153042745 [GRCh37] ChrX:Xq28 |
benign |
| NC_000023.10:g.(?_152954020)_(154096327_?)del | deletion | Adrenoleukodystrophy [RCV000815921] | ChrX:152954020..154096327 [GRCh37] ChrX:Xq28 |
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 Xq28(chrX:152398094-153086545)x2 | copy number gain | not provided [RCV000848454] | ChrX:152398094..153086545 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 | copy number loss | not provided [RCV000849097] | ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 | copy number loss | not provided [RCV000845672] | ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
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 |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 | copy number loss | Premature ovarian insufficiency [RCV000852349] | ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
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 Xq24-28(chrX:118150047-155233731)x1 | copy number loss | not provided [RCV000847838] | ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
| NM_005393.3(PLXNB3):c.2085G>A (p.Val695=) | single nucleotide variant | not provided [RCV000996044] | ChrX:153770832 [GRCh38] ChrX:153036287 [GRCh37] ChrX:Xq28 |
uncertain significance |
| NM_005393.3(PLXNB3):c.4817C>T (p.Thr1606Ile) | single nucleotide variant | not provided [RCV000996045] | ChrX:153776443 [GRCh38] ChrX:153041898 [GRCh37] ChrX:Xq28 |
uncertain significance |
| NM_005393.3(PLXNB3):c.2008G>A (p.Glu670Lys) | single nucleotide variant | not provided [RCV000885932] | ChrX:153770640 [GRCh38] ChrX:153036095 [GRCh37] ChrX:Xq28 |
likely benign |
| NM_005393.3(PLXNB3):c.4509T>C (p.Asp1503=) | single nucleotide variant | not provided [RCV000897031] | ChrX:153775994 [GRCh38] ChrX:153041449 [GRCh37] ChrX:Xq28 |
likely benign |
| NM_005393.3(PLXNB3):c.3311G>A (p.Ser1104Asn) | single nucleotide variant | not provided [RCV000887374] | ChrX:153773890 [GRCh38] ChrX:153039345 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.1991C>T (p.Thr664Ile) | single nucleotide variant | not provided [RCV000879484] | ChrX:153770623 [GRCh38] ChrX:153036078 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.4113G>A (p.Thr1371=) | single nucleotide variant | not provided [RCV000910792] | ChrX:153775061 [GRCh38] ChrX:153040516 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.2156A>G (p.His719Arg) | single nucleotide variant | not provided [RCV000912212] | ChrX:153770984 [GRCh38] ChrX:153036439 [GRCh37] ChrX:Xq28 |
likely benign |
| NM_005393.3(PLXNB3):c.3897C>A (p.Thr1299=) | single nucleotide variant | not provided [RCV000890609] | ChrX:153774772 [GRCh38] ChrX:153040227 [GRCh37] ChrX:Xq28 |
benign |
| NM_005393.3(PLXNB3):c.3279+8C>T | single nucleotide variant | not provided [RCV000955629] | ChrX:153773721 [GRCh38] ChrX:153039176 [GRCh37] ChrX:Xq28 |
benign |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:9105 | AgrOrtholog |
| COSMIC | PLXNB3 | COSMIC |
| Ensembl Genes | ENSG00000198753 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000355378 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000391650 | UniProtKB/TrEMBL | |
| ENSP00000396048 | UniProtKB/TrEMBL | |
| ENSP00000412454 | UniProtKB/TrEMBL | |
| ENSP00000442736 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000361971 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000411613 | UniProtKB/TrEMBL | |
| ENST00000448847 | UniProtKB/TrEMBL | |
| ENST00000455214 | UniProtKB/TrEMBL | |
| ENST00000538966 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 2.130.10.10 | UniProtKB/Swiss-Prot |
| 2.60.40.10 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000198753 | GTEx |
| HGNC ID | HGNC:9105 | ENTREZGENE |
| Human Proteome Map | PLXNB3 | Human Proteome Map |
| InterPro | Ig-like_fold | UniProtKB/Swiss-Prot |
| Ig_E-set | UniProtKB/Swiss-Prot | |
| IPT_dom | UniProtKB/Swiss-Prot | |
| Plexin | UniProtKB/Swiss-Prot | |
| Plexin_cytoplasmic_RasGAP_dom | UniProtKB/Swiss-Prot | |
| Plexin_repeat | UniProtKB/Swiss-Prot | |
| PSI | UniProtKB/Swiss-Prot | |
| Rho_GTPase_activation_prot | UniProtKB/Swiss-Prot | |
| Semap_dom | UniProtKB/Swiss-Prot | |
| Semap_dom_sf | UniProtKB/Swiss-Prot | |
| TIG1_plexin | UniProtKB/Swiss-Prot | |
| TIG2_plexin | UniProtKB/Swiss-Prot | |
| WD40/YVTN_repeat-like_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:5365 | UniProtKB/Swiss-Prot |
| NCBI Gene | 5365 | ENTREZGENE |
| OMIM | 300214 | OMIM |
| PANTHER | PTHR22625 | UniProtKB/Swiss-Prot |
| Pfam | Plexin_cytopl | UniProtKB/Swiss-Prot |
| PSI | UniProtKB/Swiss-Prot | |
| Sema | UniProtKB/Swiss-Prot | |
| TIG | UniProtKB/Swiss-Prot | |
| TIG_2 | UniProtKB/Swiss-Prot | |
| TIG_plexin | UniProtKB/Swiss-Prot | |
| PharmGKB | PA33431 | PharmGKB |
| PROSITE | SEMA | UniProtKB/Swiss-Prot |
| SMART | IPT | UniProtKB/Swiss-Prot |
| PSI | UniProtKB/Swiss-Prot | |
| Sema | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF101912 | UniProtKB/Swiss-Prot |
| SSF48350 | UniProtKB/Swiss-Prot | |
| SSF81296 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.632833 | ENTREZGENE |
| UniProt | A8K920 | ENTREZGENE, UniProtKB/TrEMBL |
| H7BZV5_HUMAN | UniProtKB/TrEMBL | |
| H7C0P4_HUMAN | UniProtKB/TrEMBL | |
| H7C3L0_HUMAN | UniProtKB/TrEMBL | |
| PLXB3_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | B7Z3E6 | UniProtKB/Swiss-Prot |
| F5H773 | UniProtKB/Swiss-Prot | |
| Q9HDA4 | UniProtKB/Swiss-Prot |
 |
| More on PLXNB3 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1350171 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| Status: | ACTIVE |
