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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - MGI | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Scheuermann's disease | ISS | RGD:69162 | 13592920 | OMIM:181440 | MouseDO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sotos syndrome | IEA | 13592920 | OMIM:117550 , OMIM:614753 | MouseDO | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Phenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | RGD automated import pipeline for gene-chemical interactions |
| 5. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 7590749 7937100 8340106 8799200 9079676 9099724 9380514 10636857 11046146 11068044 11896613 12477932 12624117 15057824 15342556 16009940 16565071 16928756 18754024 19274049 19416921 19418463 19706729 20150379 20673863 21189253 21873635 21953450 22301465 22422452 22925353 23455924 24924640 25118028 25187353 25220407 25416956 25609649 26200704 26653554 26695693 26871637 28076901 28442439 28514442 28611215 28800311 29117863 29184170 29509190 29897170 30264502 30287093 30418046 |
Comparative Map Data| NFIX (Homo sapiens - human) |
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| Nfix (Mus musculus - house mouse) |
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| Nfix (Rattus norvegicus - Norway rat) |
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| Nfix (Chinchilla lanigera - long-tailed chinchilla) |
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| NFIX (Pan paniscus - bonobo/pygmy chimpanzee) |
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| NFIX (Canis lupus familiaris - dog) |
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| Nfix (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| NFIX (Sus scrofa - pig) |
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Position Markers| RH91530 |
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| RH119419 |
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| RH123975 |
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| G49214 |
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| D19S817 |
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| STS-N23687 |
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| RH18298 |
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| NFIX |
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| RH66061 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Nucleotide Sequences| RefSeq Transcripts | NG_032925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001271043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001271044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001365902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001365982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001365983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001365984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001365985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_002501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005259917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005259920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006722760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011528040 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC004660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC007787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC022152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC138474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK295290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC036885 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC117113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC117115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BF115883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BP228658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BT019732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX537794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FJ861276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF456509 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L31881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U07811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U18759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U18760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U18761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001271043 ⟹ NP_001257972 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGACGGACACTGTGCCGGGGCGAGCTGACAGGAGTTCACGGCTGCGATAGAACATGGAGATGTChide sequence |
| RefSeq Acc Id: | NM_001271044 ⟹ NP_001257973 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AACTCTTTTGAGTCCAGAATCTCAGAATCGGGCGTTGGGCTTTGCCGGGTGCTTCAGATCAATGhide sequence |
| RefSeq Acc Id: | NM_001365902 ⟹ NP_001352831 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001365982 ⟹ NP_001352911 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001365983 ⟹ NP_001352912 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001365984 ⟹ NP_001352913 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001365985 ⟹ NP_001352914 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_002501 ⟹ NP_002492 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCGGCCGCCGCCTGCCGGGCCTCCCCTCGCCGCGGCCGGCCGCCGCGCTCCCGCCCGGGCGCCChide sequence |
| RefSeq Acc Id: | XM_005259917 ⟹ XP_005259974 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
TATTACTGTGATTAACATTAGTATTGGTGTCGATAACAAAGCTGAAATCACATATTTAGGATTThide sequence |
| RefSeq Acc Id: | XM_005259920 ⟹ XP_005259977 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCChide sequence |
| RefSeq Acc Id: | XM_006722760 ⟹ XP_006722823 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTCGCTTGCTCGTGGATGTCATTTTCTGTCTTCTTGGGGGCGGCCAAAAATCGACCGGTGTCGGhide sequence |
| RefSeq Acc Id: | XM_011528040 ⟹ XP_011526342 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACGGCTGCGATAGAACATGGAGATGTCATGGGCGCGACAGAGCCTGGCGGGGATACCAGCAGCGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001257972 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001257973 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001352831 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001352911 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001352912 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001352913 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001352914 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_002492 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005259974 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005259977 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006722823 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011526342 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA53422 | (Get FASTA) | NCBI Sequence Viewer |
| AAA93126 | (Get FASTA) | NCBI Sequence Viewer | |
| AAB52369 | (Get FASTA) | NCBI Sequence Viewer | |
| AAB52370 | (Get FASTA) | NCBI Sequence Viewer | |
| AAB52371 | (Get FASTA) | NCBI Sequence Viewer | |
| AAC15752 | (Get FASTA) | NCBI Sequence Viewer | |
| AAD38240 | (Get FASTA) | NCBI Sequence Viewer | |
| AAD38241 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI17114 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI17116 | (Get FASTA) | NCBI Sequence Viewer | |
| AAV38537 | (Get FASTA) | NCBI Sequence Viewer | |
| ACV82593 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG58274 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG59737 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD97845 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84338 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84339 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84340 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84341 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW84342 | (Get FASTA) | NCBI Sequence Viewer | |
| Q14938 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_002492 ⟸ NM_002501 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q14938 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKhide sequence |
| RefSeq Acc Id: | NP_001257973 ⟸ NM_001271044 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | Q14938 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWAhide sequence |
| RefSeq Acc Id: | NP_001257972 ⟸ NM_001271043 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | B4DHW2 (UniProtKB/TrEMBL) |
| - Sequence: |
MEMSWARQSLAGIPAACDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVhide sequence |
| RefSeq Acc Id: | XP_005259977 ⟸ XM_005259920 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | D2DXM9 (UniProtKB/TrEMBL) |
| - Sequence: |
MDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWAhide sequence |
| RefSeq Acc Id: | XP_005259974 ⟸ XM_005259917 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MSFSVFLGAAKNRPVSGTRGGPARPRVCVHGRLCRRTLCRGELTGVHGCDRTWRCHGRDRAWRGhide sequence |
| RefSeq Acc Id: | XP_006722823 ⟸ XM_006722760 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MSFSVFLGAAKNRPVSGTRGGPARPRVCVHGRLCRRTLCRGELTGVHGCDRTWRCHGRDRAWRGhide sequence |
| RefSeq Acc Id: | XP_011526342 ⟸ XM_011528040 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MGATEPGGDTSSVCVWTATLSVRVCDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMhide sequence |
| RefSeq Acc Id: | NP_001352831 ⟸ NM_001365902 |
| - Peptide Label: | isoform 4 |
| RefSeq Acc Id: | NP_001352911 ⟸ NM_001365982 |
| - Peptide Label: | isoform 5 |
| RefSeq Acc Id: | NP_001352912 ⟸ NM_001365983 |
| - Peptide Label: | isoform 6 |
| RefSeq Acc Id: | NP_001352913 ⟸ NM_001365984 |
| - Peptide Label: | isoform 7 |
| RefSeq Acc Id: | NP_001352914 ⟸ NM_001365985 |
| - Peptide Label: | isoform 8 |
Promoters| RGD ID: | 6795844 | |||||||||
| Promoter ID: | HG_KWN:29049 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | ENST00000397661, NM_002501 | |||||||||
| Position: |
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| RGD ID: | 6795848 | |||||||||
| Promoter ID: | HG_KWN:29050 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | UC002MWE.1 | |||||||||
| Position: |
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| RGD ID: | 7238767 | |||||||||
| Promoter ID: | EPDNEW_H25129 | |||||||||
| Type: | initiation region | |||||||||
| Name: | NFIX_1 | |||||||||
| Description: | nuclear factor I X | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7238773 | |||||||||
| Promoter ID: | EPDNEW_H25130 | |||||||||
| Type: | initiation region | |||||||||
| Name: | NFIX_2 | |||||||||
| Description: | nuclear factor I X | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6815279 | |||||||||
| Promoter ID: | HG_MRA:7841 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | BC036885 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_002501.4(NFIX):c.568C>T (p.Gln190Ter) | single nucleotide variant | Sotos syndrome 2 [RCV000030636] | Chr19:13073055 [GRCh38] Chr19:13183869 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.1009_1010TC[1] (p.Gln338fs) | microsatellite | Marshall-Smith syndrome [RCV000030637] | Chr19:13078668..13078669 [GRCh38] Chr19:13189482..13189483 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.1003_1007CTCTC[1] (p.Ser337fs) | microsatellite | Marshall-Smith syndrome [RCV000030639] | Chr19:13078665..13078669 [GRCh38] Chr19:13189479..13189483 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.1243del (p.Ala415fs) | deletion | Marshall-Smith syndrome [RCV000030641] | Chr19:13081844 [GRCh38] Chr19:13192658 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.955+1G>A | single nucleotide variant | Marshall-Smith syndrome [RCV000030644] | Chr19:13075672 [GRCh38] Chr19:13186486 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.955+1G>T | single nucleotide variant | Marshall-Smith syndrome [RCV000030645] | Chr19:13075672 [GRCh38] Chr19:13186486 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.179T>C (p.Leu60Pro) | single nucleotide variant | Sotos syndrome 2 [RCV000030646] | Chr19:13025172 [GRCh38] Chr19:13135986 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.362G>C (p.Arg121Pro) | single nucleotide variant | Sotos syndrome 2 [RCV000030647] | Chr19:13025355 [GRCh38] Chr19:13136169 [GRCh37] Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|See cases [RCV000052908] | Chr19:8831147..13331227 [GRCh38] Chr19:8941823..13442041 [GRCh37] Chr19:8802823..13303041 [NCBI36] Chr19:19p13.2-13.13 |
likely pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|See cases [RCV000052909] | Chr19:10315258..14048994 [GRCh38] Chr19:10425934..14159806 [GRCh37] Chr19:10286934..14020806 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052910]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052910]|See cases [RCV000052910] | Chr19:12132052..14751798 [GRCh38] Chr19:12242867..14862610 [GRCh37] Chr19:12103867..14723610 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052911]|See cases [RCV000052911] | Chr19:12850595..13290954 [GRCh38] Chr19:12961409..13401768 [GRCh37] Chr19:12822409..13262768 [NCBI36] Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054144]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054144]|See cases [RCV000054144] | Chr19:12813597..13119698 [GRCh38] Chr19:12924411..13230512 [GRCh37] Chr19:12785411..13091512 [NCBI36] Chr19:19p13.13 |
uncertain significance |
| GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] | Chr19:11227942..14532135 [GRCh38] Chr19:11338618..14642947 [GRCh37] Chr19:11199618..14503947 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 | copy number loss | Episodic vomiting [RCV000053945]|See cases [RCV000053945] | Chr19:11517825..13225287 [GRCh38] Chr19:11628640..13336101 [GRCh37] Chr19:11489640..13197101 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
| NM_002501.3(NFIX):c.153C>G (p.Asp51Glu) | single nucleotide variant | Malignant melanoma [RCV000063436] | Chr19:13025146 [GRCh38] Chr19:13135960 [GRCh37] Chr19:12996960 [NCBI36] Chr19:19p13.13 |
not provided |
| NM_002501.4(NFIX):c.1037dup (p.Thr347fs) | duplication | Marshall-Smith syndrome [RCV000030638] | Chr19:13078694 [GRCh38] Chr19:13189508 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.1049dup (p.Leu351fs) | duplication | Marshall-Smith syndrome [RCV000030640] | Chr19:13078706 [GRCh38] Chr19:13189520 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.994dup (p.Cys332fs) | duplication | Marshall-Smith syndrome [RCV000030642] | Chr19:13078651 [GRCh38] Chr19:13189465 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.959dup (p.Ala321fs) | duplication | Marshall-Smith syndrome [RCV000030643] | Chr19:13078616 [GRCh38] Chr19:13189430 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.716C>G (p.Ser239Ter) | single nucleotide variant | Sotos syndrome 2 [RCV000077780] | Chr19:13073924 [GRCh38] Chr19:13184738 [GRCh37] Chr19:19p13.13 |
pathogenic |
| Single allele | single nucleotide variant | not provided [RCV000171488] | Chr19:13136006 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
| NM_002501.4(NFIX):c.520G>T (p.Glu174Ter) | single nucleotide variant | not provided [RCV000171277] | Chr19:13025513 [GRCh38] Chr19:13136327 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_002501.4(NFIX):c.1140G>A (p.Ser380=) | single nucleotide variant | Marshall-Smith syndrome [RCV000558511]|not specified [RCV000180230] | Chr19:13081741 [GRCh38] Chr19:13192555 [GRCh37] Chr19:19p13.13 |
benign |
| NM_002501.4(NFIX):c.361C>T (p.Arg121Cys) | single nucleotide variant | Inborn genetic diseases [RCV000190740]|Multiple congenital anomalies [RCV000190740] | Chr19:13025354 [GRCh38] Chr19:13136168 [GRCh37] Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1 | copy number loss | See cases [RCV000135352] | Chr19:13034666..13283686 [GRCh38] Chr19:13145480..13394500 [GRCh37] Chr19:13006480..13255500 [NCBI36] Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3 | copy number gain | See cases [RCV000136559] | Chr19:12978943..13236134 [GRCh38] Chr19:13089757..13346948 [GRCh37] Chr19:12950757..13207948 [NCBI36] Chr19:19p13.13 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 | copy number loss | See cases [RCV000135937] | Chr19:12580427..14742673 [GRCh38] Chr19:12691241..14853485 [GRCh37] Chr19:12552241..14714485 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic|likely pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 | copy number loss | See cases [RCV000136909] | Chr19:11525163..14155021 [GRCh38] Chr19:11635978..14265833 [GRCh37] Chr19:11496978..14126833 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1 | copy number loss | See cases [RCV000138197] | Chr19:12974394..13408586 [GRCh38] Chr19:13085208..13519400 [GRCh37] Chr19:12946208..13380400 [NCBI36] Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 | copy number loss | See cases [RCV000141568] | Chr19:10319474..13777860 [GRCh38] Chr19:10430150..13888674 [GRCh37] Chr19:10291150..13749674 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
| NM_002501.4(NFIX):c.876C>A (p.Asp292Glu) | single nucleotide variant | not specified [RCV000193585] | Chr19:13075592 [GRCh38] Chr19:13186406 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.338_342dup (p.Arg116fs) | duplication | Sotos syndrome 2 [RCV000191110] | Chr19:13025331..13025335 [GRCh38] Chr19:13136145..13136149 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.1080_1096del (p.Ser361fs) | deletion | Marshall-Smith syndrome [RCV000192696] | Chr19:13081681..13081697 [GRCh38] Chr19:13192495..13192511 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.970_971del (p.Lys324fs) | deletion | Marshall-Smith syndrome [RCV000194821] | Chr19:13078627..13078628 [GRCh38] Chr19:13189441..13189442 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.950_954del (p.Asp317fs) | deletion | not provided [RCV000255435] | Chr19:13075666..13075670 [GRCh38] Chr19:13186480..13186484 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.337A>G (p.Lys113Glu) | single nucleotide variant | Marfanoid habitus and intellectual disability [RCV000850427]|Sotos syndrome 2 [RCV000677674] | Chr19:13025330 [GRCh38] Chr19:13136144 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NC_000019.9:g.(?_13106632)_(13428155_?)del | deletion | Marshall-Smith syndrome [RCV000543828] | Chr19:13106632..13428155 [GRCh37] Chr19:19p13.2 |
pathogenic |
| NM_002501.4(NFIX):c.143T>A (p.Met48Lys) | single nucleotide variant | not specified [RCV000519161] | Chr19:13025136 [GRCh38] Chr19:13135950 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.666G>A (p.Trp222Ter) | single nucleotide variant | not provided [RCV000292746] | Chr19:13073465 [GRCh38] Chr19:13184279 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.1087dup (p.Arg363fs) | duplication | not provided [RCV000353243] | Chr19:13081688 [GRCh38] Chr19:13192502 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.637C>T (p.Gln213Ter) | single nucleotide variant | not provided [RCV000360650] | Chr19:13073436 [GRCh38] Chr19:13184250 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.303del (p.Cys102fs) | deletion | not provided [RCV000374170] | Chr19:13025296 [GRCh38] Chr19:13136110 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.905del (p.Pro302fs) | deletion | not provided [RCV000401893] | Chr19:13075621 [GRCh38] Chr19:13186435 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.1116dup (p.Ser373fs) | duplication | not provided [RCV000402018] | Chr19:13081717 [GRCh38] Chr19:13192531 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_001271043.2(NFIX):c.1104delG | deletion | not provided [RCV000489396] | Chr19:13081681 [GRCh38] Chr19:13192495 [GRCh37] Chr19:19p13.13 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:13135448-13136366)x2 | copy number loss | not provided [RCV000585332] | Chr19:13135448..13136366 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
| NM_002501.4(NFIX):c.1180del (p.His394fs) | deletion | Inborn genetic diseases [RCV000624653] | Chr19:13081781 [GRCh38] Chr19:13192595 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.553A>G (p.Thr185Ala) | single nucleotide variant | not provided [RCV000522941] | Chr19:13025546 [GRCh38] Chr19:13136360 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NM_002501.4(NFIX):c.324dup (p.Asp109fs) | duplication | not provided [RCV000599288] | Chr19:13025317 [GRCh38] Chr19:13136131 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.671_672delinsCT (p.Val224Ala) | indel | not specified [RCV000599542] | Chr19:13073470..13073471 [GRCh38] Chr19:13184284..13184285 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.772C>T (p.Gln258Ter) | single nucleotide variant | not provided [RCV000599594] | Chr19:13073980 [GRCh38] Chr19:13184794 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.467G>C (p.Cys156Ser) | single nucleotide variant | Sotos syndrome 2 [RCV000590929] | Chr19:13025460 [GRCh38] Chr19:13136274 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| GRCh37/hg19 19p13.2(chr19:13135448-13136366)x1 | copy number loss | not provided [RCV000585508] | Chr19:13135448..13136366 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
| NM_002501.4(NFIX):c.559+1G>A | single nucleotide variant | not provided [RCV000413514] | Chr19:13025553 [GRCh38] Chr19:13136367 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.488T>G (p.Val163Gly) | single nucleotide variant | not provided [RCV000413589] | Chr19:13025481 [GRCh38] Chr19:13136295 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3 | copy number gain | See cases [RCV000449427] | Chr19:13180583..13319148 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
| GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 | copy number loss | See cases [RCV000449161] | Chr19:12204632..13497073 [GRCh37] Chr19:19p13.2 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) | copy number gain | See cases [RCV000446985] | Chr19:9678768..14853426 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
| NM_002501.4(NFIX):c.819-16T>C | single nucleotide variant | not specified [RCV000417925] | Chr19:13075519 [GRCh38] Chr19:13186333 [GRCh37] Chr19:19p13.13 |
likely benign |
| NM_002501.4(NFIX):c.1088G>A (p.Arg363Gln) | single nucleotide variant | not specified [RCV000421141] | Chr19:13081689 [GRCh38] Chr19:13192503 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.183G>A (p.Leu61=) | single nucleotide variant | Marshall-Smith syndrome [RCV000536835]|not specified [RCV000425767] | Chr19:13025176 [GRCh38] Chr19:13135990 [GRCh37] Chr19:19p13.13 |
likely benign |
| NM_002501.4(NFIX):c.186C>G (p.Gly62=) | single nucleotide variant | not specified [RCV000437022] | Chr19:13025179 [GRCh38] Chr19:13135993 [GRCh37] Chr19:19p13.13 |
likely benign |
| NM_002501.4(NFIX):c.1255-15C>T | single nucleotide variant | not specified [RCV000430814] | Chr19:13090284 [GRCh38] Chr19:13201098 [GRCh37] Chr19:19p13.13 |
likely benign |
| NM_002501.4(NFIX):c.698-12C>T | single nucleotide variant | not specified [RCV000444700] | Chr19:13073894 [GRCh38] Chr19:13184708 [GRCh37] Chr19:19p13.13 |
likely benign |
| NM_002501.4(NFIX):c.267_268delinsC (p.Glu89fs) | indel | not provided [RCV000480113] | Chr19:13025260..13025261 [GRCh38] Chr19:13136074..13136075 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.73del (p.Ala25fs) | deletion | Sotos syndrome 2 [RCV000496183] | Chr19:13025066 [GRCh38] Chr19:13135880 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.927dup (p.Ser310fs) | duplication | Marshall-Smith syndrome [RCV000503907] | Chr19:13075643 [GRCh38] Chr19:13186457 [GRCh37] Chr19:19p13.13 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 | copy number loss | See cases [RCV000511130] | Chr19:12574343..14726197 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 | copy number gain | See cases [RCV000511013] | Chr19:11608072..14543046 [GRCh37] Chr19:19p13.2-13.12 |
uncertain significance |
| NM_002501.4(NFIX):c.220C>G (p.Arg74Gly) | single nucleotide variant | Inborn genetic diseases [RCV000624695] | Chr19:13025213 [GRCh38] Chr19:13136027 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| NM_002501.4(NFIX):c.154G>T (p.Glu52Ter) | single nucleotide variant | not provided [RCV000585476] | Chr19:13025147 [GRCh38] Chr19:13135961 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NM_002501.4(NFIX):c.358del (p.Leu120fs) | deletion | Marshall-Smith syndrome [RCV000650505] | Chr19:13025351 [GRCh38] Chr19:13136165 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.113_114delinsTT (p.Arg38Leu) | indel | not provided [RCV000658443] | Chr19:13025106..13025107 [GRCh38] Chr19:13135920..13135921 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.326A>C (p.Asp109Ala) | single nucleotide variant | not provided [RCV000658249] | Chr19:13025319 [GRCh38] Chr19:13136133 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.416G>A (p.Gly139Glu) | single nucleotide variant | Marshall-Smith syndrome [RCV000677236] | Chr19:13025409 [GRCh38] Chr19:13136223 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.787C>T (p.Arg263Trp) | single nucleotide variant | Marshall-Smith syndrome [RCV000702379] | Chr19:13073995 [GRCh38] Chr19:13184809 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.988G>A (p.Asp330Asn) | single nucleotide variant | Marshall-Smith syndrome [RCV000685480] | Chr19:13078645 [GRCh38] Chr19:13189459 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.955+2T>C | single nucleotide variant | Marshall-Smith syndrome [RCV000704861] | Chr19:13075673 [GRCh38] Chr19:13186487 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NC_000019.9:g.(?_13186349)_(13189549_?)del | deletion | Marshall-Smith syndrome [RCV000707751] | Chr19:13075535..13078735 [GRCh38] Chr19:13186349..13189549 [GRCh37] Chr19:19p13.13 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
| NM_002501.4(NFIX):c.834del (p.Lys279fs) | deletion | Marshall-Smith syndrome [RCV000761317] | Chr19:13075550 [GRCh38] Chr19:13186364 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NM_002501.4(NFIX):c.28-391G>C | single nucleotide variant | not provided [RCV000761990] | Chr19:13024630 [GRCh38] Chr19:13135444 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.136A>T (p.Lys46Ter) | single nucleotide variant | Marshall-Smith syndrome [RCV000760224] | Chr19:13025129 [GRCh38] Chr19:13135943 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.440G>A (p.Gly147Glu) | single nucleotide variant | Laryngomalacia [RCV000770997] | Chr19:13025433 [GRCh38] Chr19:13136247 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NM_002501.4(NFIX):c.303dup (p.Cys102fs) | duplication | Marshall-Smith syndrome [RCV000810600] | Chr19:13025296 [GRCh38] Chr19:13136110 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.560-91C>T | single nucleotide variant | not provided [RCV000832286] | Chr19:13072956 [GRCh38] Chr19:13183770 [GRCh37] Chr19:19p13.13 |
likely benign |
| NC_000019.9:g.(?_13186329)_(13189569_?)dup | duplication | Marshall-Smith syndrome [RCV000823261] | Chr19:13075515..13078755 [GRCh38] Chr19:13186329..13189569 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.28-638T>C | single nucleotide variant | not provided [RCV000836981] | Chr19:13024383 [GRCh38] Chr19:13135197 [GRCh37] Chr19:19p13.13 |
benign |
| NM_002501.4(NFIX):c.1260G>A (p.Ser420=) | single nucleotide variant | not provided [RCV000827369] | Chr19:13090304 [GRCh38] Chr19:13201118 [GRCh37] Chr19:19p13.13 |
likely benign |
| NM_002501.4(NFIX):c.27+113C>T | single nucleotide variant | not provided [RCV000837053] | Chr19:12995977 [GRCh38] Chr19:13106791 [GRCh37] Chr19:19p13.13 |
likely benign |
| NM_002501.4(NFIX):c.955+39C>T | single nucleotide variant | not provided [RCV000829941] | Chr19:13075710 [GRCh38] Chr19:13186524 [GRCh37] Chr19:19p13.13 |
benign |
| NM_002501.4(NFIX):c.232A>T (p.Lys78Ter) | single nucleotide variant | Marshall-Smith syndrome [RCV000791914] | Chr19:13025225 [GRCh38] Chr19:13136039 [GRCh37] Chr19:19p13.13 |
pathogenic |
| NM_002501.4(NFIX):c.28-1334A>T | single nucleotide variant | not provided [RCV000832854] | Chr19:13023687 [GRCh38] Chr19:13134501 [GRCh37] Chr19:19p13.13 |
likely benign |
| NM_002501.4(NFIX):c.143T>C (p.Met48Thr) | single nucleotide variant | Marshall-Smith syndrome [RCV000808961] | Chr19:13025136 [GRCh38] Chr19:13135950 [GRCh37] Chr19:19p13.13 |
uncertain significance |
| NM_002501.4(NFIX):c.344G>A (p.Arg115Gln) | single nucleotide variant | Marfanoid habitus and intellectual disability [RCV000850473] | Chr19:13025337 [GRCh38] Chr19:13136151 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
| NM_002501.4(NFIX):c.43_49dup (p.Glu17fs) | duplication | Marshall-Smith syndrome [RCV000818364] | Chr19:13025036..13025042 [GRCh38] Chr19:13135847..13135848 [GRCh37] Chr19:19p13.13 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 | copy number loss | not provided [RCV000846538] | Chr19:12354642..13424014 [GRCh37] Chr19:19p13.2 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:7788 | AgrOrtholog |
| COSMIC | NFIX | COSMIC |
| Ensembl Genes | ENSG00000008441 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000351354 | UniProtKB/TrEMBL |
| ENSP00000353219 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000380781 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000465094 | UniProtKB/TrEMBL | |
| ENSP00000465616 | UniProtKB/TrEMBL | |
| ENSP00000466389 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000466605 | UniProtKB/TrEMBL | |
| ENSP00000466735 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000467512 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000467536 | UniProtKB/TrEMBL | |
| ENSP00000467785 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000468707 | UniProtKB/TrEMBL | |
| ENSP00000468794 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000358552 | UniProtKB/TrEMBL |
| ENST00000360105 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000397661 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000585382 | UniProtKB/TrEMBL | |
| ENST00000585575 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000586797 | UniProtKB/TrEMBL | |
| ENST00000586873 | UniProtKB/TrEMBL | |
| ENST00000587260 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000587760 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000588228 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000590027 | UniProtKB/TrEMBL | |
| ENST00000591028 | UniProtKB/TrEMBL | |
| ENST00000592199 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000008441 | GTEx |
| HGNC ID | HGNC:7788 | ENTREZGENE |
| Human Proteome Map | NFIX | Human Proteome Map |
| InterPro | CTF/NFI | UniProtKB/Swiss-Prot |
| CTF/NFI_DNA-bd-dom | UniProtKB/Swiss-Prot | |
| CTF/NFI_DNA-bd_CS | UniProtKB/Swiss-Prot | |
| CTF/NFI_DNA-bd_N | UniProtKB/Swiss-Prot | |
| MAD_homology1_Dwarfin-type | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:4784 | UniProtKB/Swiss-Prot |
| NCBI Gene | 4784 | ENTREZGENE |
| OMIM | 164005 | OMIM |
| 602535 | OMIM | |
| 614753 | OMIM | |
| PANTHER | PTHR11492 | UniProtKB/Swiss-Prot |
| Pfam | CTF_NFI | UniProtKB/Swiss-Prot |
| MH1 | UniProtKB/Swiss-Prot | |
| NfI_DNAbd_pre-N | UniProtKB/Swiss-Prot | |
| PharmGKB | PA31594 | PharmGKB |
| PROSITE | CTF_NFI_1 | UniProtKB/Swiss-Prot |
| CTF_NFI_2 | UniProtKB/Swiss-Prot | |
| SMART | DWA | UniProtKB/Swiss-Prot |
| UniGene | Hs.257970 | ENTREZGENE |
| UniProt | B4DHW2 | ENTREZGENE, UniProtKB/TrEMBL |
| C9JWJ8_HUMAN | UniProtKB/TrEMBL | |
| D2DXM9 | ENTREZGENE, UniProtKB/TrEMBL | |
| K7EJB0_HUMAN | UniProtKB/TrEMBL | |
| K7EKH0_HUMAN | UniProtKB/TrEMBL | |
| K7EMQ5_HUMAN | UniProtKB/TrEMBL | |
| K7EN08_HUMAN | UniProtKB/TrEMBL | |
| K7EPU2_HUMAN | UniProtKB/TrEMBL | |
| K7ESG9_HUMAN | UniProtKB/TrEMBL | |
| NFIX_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | B4DM25 | UniProtKB/Swiss-Prot |
| O60413 | UniProtKB/Swiss-Prot | |
| Q0VG09 | UniProtKB/Swiss-Prot | |
| Q12859 | UniProtKB/Swiss-Prot | |
| Q13050 | UniProtKB/Swiss-Prot | |
| Q13052 | UniProtKB/Swiss-Prot | |
| Q5U094 | UniProtKB/Swiss-Prot | |
| Q9UPH1 | UniProtKB/Swiss-Prot | |
| Q9Y6R8 | UniProtKB/Swiss-Prot | |
| X6R5U1 | UniProtKB/TrEMBL |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-04-12 | NFIX | nuclear factor I X | nuclear factor I/X (CCAAT-binding transcription factor) | Symbol and/or name change | 5135510 | APPROVED | |
| 2012-09-19 | NFIX | nuclear factor I/X (CCAAT-binding transcription factor) | NFIX | nuclear factor I/X (CCAAT-binding transcription factor) | Symbol and/or name change | 5135510 | APPROVED |
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| More on NFIX | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 69161 |
| Created: | 2001-11-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-10-16 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
