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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Scheuermann's disease | | ISS | RGD:69162 | 13592920 | OMIM:181440 | MouseDO | | Sotos syndrome | | ISS | RGD:69162 | 13592920 | OMIM:117550 more ... | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Scheuermann's disease | | ISS | RGD:69162 | 13592920 | OMIM:181440 | MouseDO | | Sotos syndrome | | ISS | RGD:69162 | 13592920 | OMIM:117550 more ... | MouseDO | | |
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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 |
PMID:7590749 | PMID:7937100 | PMID:8340106 | PMID:8799200 | PMID:9079676 | PMID:9099724 | PMID:9380514 | PMID:10636857 | PMID:11046146 | PMID:11068044 | PMID:11896613 | PMID:12477932 |
PMID:12624117 | PMID:15057824 | PMID:15342556 | PMID:16009940 | PMID:16565071 | PMID:16928756 | PMID:18754024 | PMID:19274049 | PMID:19416921 | PMID:19418463 | PMID:19706729 | PMID:20150379 |
PMID:20673863 | PMID:21189253 | PMID:21873635 | PMID:21953450 | PMID:22301465 | PMID:22422452 | PMID:22925353 | PMID:23455924 | PMID:24924640 | PMID:25118028 | PMID:25187353 | PMID:25220407 |
PMID:25416956 | PMID:25609649 | PMID:26200704 | PMID:26653554 | PMID:26695693 | PMID:26760575 | PMID:26871637 | PMID:28076901 | PMID:28442439 | PMID:28473536 | PMID:28514442 | PMID:28611215 |
PMID:28800311 | PMID:29117863 | PMID:29184170 | PMID:29509190 | PMID:29844126 | PMID:29897170 | PMID:29899543 | PMID:30264502 | PMID:30287093 | PMID:30418046 | PMID:30581152 | PMID:30804502 |
PMID:31045890 | PMID:31369202 | PMID:31888753 | PMID:32296183 |
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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NFIX (Chlorocebus sabaeus - African green monkey) |
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Nfix (Heterocephalus glaber - naked mole-rat) |
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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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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. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2362 | 2220 | 1414 | 388 | 442 | 229 | 4168 | 2083 | 3646 | 245 | 1394 | 1529 | 171 | 1204 | 2788 | 1 | ||
Low | 76 | 761 | 308 | 236 | 1342 | 236 | 46 | 112 | 77 | 170 | 53 | 76 | 4 | 1 | 2 | 2 | ||
Below cutoff | 1 | 8 | 4 | 160 | 137 | 2 | 11 | 4 | 12 | 6 | 2 |
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_001378404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001378405 | (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_006722760 | (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: | ENST00000358552 ⟹ ENSP00000351354 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000360105 ⟹ ENSP00000353219 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000397661 ⟹ ENSP00000380781 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000585382 ⟹ ENSP00000466605 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000585575 ⟹ ENSP00000468794 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000586797 ⟹ ENSP00000467536 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000586873 ⟹ ENSP00000468707 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000587260 ⟹ ENSP00000467785 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000587760 ⟹ ENSP00000466389 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000588228 ⟹ ENSP00000466735 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000588680 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000590027 ⟹ ENSP00000465616 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000591028 ⟹ ENSP00000465094 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000592199 ⟹ ENSP00000467512 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000676441 ⟹ ENSP00000502554 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001271043 ⟹ NP_001257972 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001271044 ⟹ NP_001257973 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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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_001378404 ⟹ NP_001365333 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001378405 ⟹ NP_001365334 | ||||||||
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: |
RefSeq Acc Id: | XM_005259917 ⟹ XP_005259974 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006722760 ⟹ XP_006722823 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
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_001365333 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001365334 | (Get FASTA) | NCBI Sequence Viewer | |
NP_002492 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005259974 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006722823 | (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: |
RefSeq Acc Id: | NP_001257973 ⟸ NM_001271044 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q14938 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001257972 ⟸ NM_001271043 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B4DHW2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005259974 ⟸ XM_005259917 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006722823 ⟸ XM_006722760 |
- Peptide Label: | isoform X6 |
- 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 |
RefSeq Acc Id: | NP_001365333 ⟸ NM_001378404 |
- Peptide Label: | isoform 9 |
RefSeq Acc Id: | NP_001365334 ⟸ NM_001378405 |
- Peptide Label: | isoform 10 |
RefSeq Acc Id: | ENSP00000353219 ⟸ ENST00000360105 |
RefSeq Acc Id: | ENSP00000468794 ⟸ ENST00000585575 |
RefSeq Acc Id: | ENSP00000466605 ⟸ ENST00000585382 |
RefSeq Acc Id: | ENSP00000468707 ⟸ ENST00000586873 |
RefSeq Acc Id: | ENSP00000467536 ⟸ ENST00000586797 |
RefSeq Acc Id: | ENSP00000467785 ⟸ ENST00000587260 |
RefSeq Acc Id: | ENSP00000466389 ⟸ ENST00000587760 |
RefSeq Acc Id: | ENSP00000466735 ⟸ ENST00000588228 |
RefSeq Acc Id: | ENSP00000465616 ⟸ ENST00000590027 |
RefSeq Acc Id: | ENSP00000465094 ⟸ ENST00000591028 |
RefSeq Acc Id: | ENSP00000467512 ⟸ ENST00000592199 |
RefSeq Acc Id: | ENSP00000380781 ⟸ ENST00000397661 |
RefSeq Acc Id: | ENSP00000351354 ⟸ ENST00000358552 |
RefSeq Acc Id: | ENSP00000502554 ⟸ ENST00000676441 |
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/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H25128 EPDNEW_H25130 | ||||||||
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/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H25128 EPDNEW_H25129 | ||||||||
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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Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_002501.4(NFIX):c.568C>T (p.Gln190Ter) | single nucleotide variant | Marshall-Smith syndrome [RCV000990161]|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] | Chr19:13078665..13078666 [GRCh38] Chr19:13189479..13189480 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.1003_1007CTCTC[1] (p.Ser337fs) | microsatellite | Marshall-Smith syndrome [RCV000030639] | Chr19:13078659..13078663 [GRCh38] Chr19:13189473..13189477 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.1243del (p.Ala415fs) | deletion | Marshall-Smith syndrome [RCV000030641] | Chr19:13081843 [GRCh38] Chr19:13192657 [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 | 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 | 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 | 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 | 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 | 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 | 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] | Chr19:13078691..13078692 [GRCh38] Chr19:13189505..13189506 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.1049dup (p.Leu351fs) | duplication | Marshall-Smith syndrome [RCV000030640] | Chr19:13078703..13078704 [GRCh38] Chr19:13189517..13189518 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.994dup (p.Cys332fs) | duplication | Marshall-Smith syndrome [RCV000030642] | Chr19:13078650..13078651 [GRCh38] Chr19:13189464..13189465 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.959dup (p.Ala321fs) | duplication | Marshall-Smith syndrome [RCV000030643] | Chr19:13078613..13078614 [GRCh38] Chr19:13189427..13189428 [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]|Marshall-Smith syndrome [RCV001250542]|Marshall-Smith syndrome [RCV001270871] | Chr19:13025354 [GRCh38] Chr19:13136168 [GRCh37] Chr19:19p13.13 |
pathogenic|likely 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] | Chr19:13025330..13025331 [GRCh38] Chr19:13136144..13136145 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.1080_1096del (p.Ser361fs) | deletion | Marshall-Smith syndrome [RCV000192696] | Chr19:13081680..13081696 [GRCh38] Chr19:13192494..13192510 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.970_971del (p.Lys324fs) | deletion | Marshall-Smith syndrome [RCV000194821] | Chr19:13078626..13078627 [GRCh38] Chr19:13189440..13189441 [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 | Sotos syndrome 2 [RCV001263215]|not provided [RCV000519161] | Chr19:13025136 [GRCh38] Chr19:13135950 [GRCh37] Chr19:19p13.13 |
likely pathogenic|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] | Chr19:13081683..13081684 [GRCh38] Chr19:13192497..13192498 [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] | Chr19:13025291 [GRCh38] Chr19:13136105 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.905del (p.Pro302fs) | deletion | not provided [RCV000401893] | Chr19:13075618 [GRCh38] Chr19:13186432 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.1116dup (p.Ser373fs) | duplication | not provided [RCV000402018] | Chr19:13081713..13081714 [GRCh38] Chr19:13192527..13192528 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001271043.2(NFIX):c.1104delG | deletion | not provided [RCV000489396] | Chr19:13081679 [GRCh38] Chr19:13192493 [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] | Chr19:13081780 [GRCh38] Chr19:13192594 [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] | Chr19:13025313..13025314 [GRCh38] Chr19:13136127..13136128 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.671_672delinsCT (p.Val224Ala) | indel | not provided [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 provided [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] | Chr19:13075641..13075642 [GRCh38] Chr19:13186455..13186456 [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_001365902.3(NFIX):c.1139C>T (p.Ser380Leu) | single nucleotide variant | Marshall-Smith syndrome [RCV001195981] | Chr19:13081740 [GRCh38] Chr19:13192554 [GRCh37] Chr19:19p13.13 |
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|uncertain significance |
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] | Chr19:13025350 [GRCh38] Chr19:13136164 [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 | not provided [RCV000702379] | Chr19:13073995 [GRCh38] Chr19:13184809 [GRCh37] Chr19:19p13.13 |
likely benign|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_000019.10:g.(?_13075535)_(13078735_?)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] | Chr19:13075547 [GRCh38] Chr19:13186361 [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.1308del (p.Thr438fs) | deletion | Marshall-Smith syndrome [RCV001072120] | Chr19:13090349 [GRCh38] Chr19:13201163 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.818+561_956-804del | deletion | Marshall-Smith syndrome [RCV001072122] | Chr19:13074582..13077804 [GRCh38] Chr19:13185396..13188618 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.1017C>A (p.Gly339=) | single nucleotide variant | not provided [RCV000905956] | Chr19:13078674 [GRCh38] Chr19:13189488 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.1143C>T (p.Ser381=) | single nucleotide variant | Marshall-Smith syndrome [RCV000878634] | Chr19:13081744 [GRCh38] Chr19:13192558 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.117G>A (p.Lys39=) | single nucleotide variant | Marshall-Smith syndrome [RCV000878790] | Chr19:13025110 [GRCh38] Chr19:13135924 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.1161G>A (p.Pro387=) | single nucleotide variant | not provided [RCV000898952] | Chr19:13081762 [GRCh38] Chr19:13192576 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.28-376A>T | single nucleotide variant | not provided [RCV000983002] | Chr19:13024645 [GRCh38] Chr19:13135459 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.1236G>A (p.Ser412=) | single nucleotide variant | Marshall-Smith syndrome [RCV000946246] | Chr19:13081837 [GRCh38] Chr19:13192651 [GRCh37] Chr19:19p13.13 |
benign |
NC_000019.10:g.(?_13087969)_(13094669_?)del | deletion | Marshall-Smith syndrome [RCV001033644] | Chr19:13198783..13205483 [GRCh37] Chr19:19p13.2 |
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.309C>T (p.Cys103=) | single nucleotide variant | not provided [RCV000939659] | Chr19:13025302 [GRCh38] Chr19:13136116 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.636C>T (p.Phe212=) | single nucleotide variant | not provided [RCV000925161] | Chr19:13073435 [GRCh38] Chr19:13184249 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.348G>C (p.Arg116=) | single nucleotide variant | not provided [RCV000915639] | Chr19:13025341 [GRCh38] Chr19:13136155 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.222G>A (p.Arg74=) | single nucleotide variant | not provided [RCV000982443] | Chr19:13025215 [GRCh38] Chr19:13136029 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.138G>A (p.Lys46=) | single nucleotide variant | not provided [RCV000930410] | Chr19:13025131 [GRCh38] Chr19:13135945 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.303dup (p.Cys102fs) | duplication | Marshall-Smith syndrome [RCV000810600] | Chr19:13025290..13025291 [GRCh38] Chr19:13136104..13136105 [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.48C>T (p.Ile16=) | single nucleotide variant | not provided [RCV000936570] | Chr19:13025041 [GRCh38] Chr19:13135855 [GRCh37] Chr19:19p13.13 |
likely benign |
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_001365902.3(NFIX):c.84C>A (p.Tyr28Ter) | single nucleotide variant | not provided [RCV001091775] | Chr19:13025077 [GRCh38] Chr19:13135891 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.43_49dup (p.Glu17fs) | duplication | Marshall-Smith syndrome [RCV000818364] | Chr19:13025033..13025034 [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 |
GRCh37/hg19 19p13.2(chr19:13135810-13136366)x1 | copy number loss | not provided [RCV000997022] | Chr19:13135810..13136366 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
NM_002501.4(NFIX):c.28-891dup | duplication | Marshall-Smith syndrome [RCV000990159] | Chr19:13024113..13024114 [GRCh38] Chr19:13134927..13134928 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.327_340del (p.Gln110fs) | deletion | Marshall-Smith syndrome [RCV000990160] | Chr19:13025318..13025331 [GRCh38] Chr19:13136132..13136145 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.799_812del (p.Thr267fs) | deletion | Marshall-Smith syndrome [RCV000990162] | Chr19:13074005..13074018 [GRCh38] Chr19:13184819..13184832 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.424dup (p.Leu142fs) | duplication | not provided [RCV001009130] | Chr19:13025412..13025413 [GRCh38] Chr19:13136226..13136227 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.1013_1014del (p.Gln338fs) | deletion | not provided [RCV001008270] | Chr19:13078670..13078671 [GRCh38] Chr19:13189484..13189485 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.818+5G>A | single nucleotide variant | Marshall-Smith syndrome [RCV001222486] | Chr19:13074031 [GRCh38] Chr19:13184845 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_002501.4(NFIX):c.933_943del (p.Trp312fs) | deletion | Marshall-Smith syndrome [RCV000853379] | Chr19:13075648..13075658 [GRCh38] Chr19:13186462..13186472 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.1204dup (p.Glu402fs) | duplication | not provided [RCV001009203] | Chr19:13081803..13081804 [GRCh38] Chr19:13192617..13192618 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.1449del (p.Ile483fs) | deletion | Marshall-Smith syndrome [RCV001198775] | Chr19:13090345 [GRCh38] Chr19:13201159 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_001365902.3(NFIX):c.442G>T (p.Glu148Ter) | single nucleotide variant | not provided [RCV001091776] | Chr19:13025435 [GRCh38] Chr19:13136249 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.1018A>G (p.Ser340Gly) | single nucleotide variant | not provided [RCV000927477] | Chr19:13078675 [GRCh38] Chr19:13189489 [GRCh37] Chr19:19p13.13 |
benign |
NM_002501.4(NFIX):c.1131_1137dup (p.Ser380fs) | duplication | Marshall-Smith syndrome [RCV000853419] | Chr19:13081731..13081732 [GRCh38] Chr19:13192545..13192546 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.628T>C (p.Leu210=) | single nucleotide variant | not provided [RCV000907934] | Chr19:13073427 [GRCh38] Chr19:13184241 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.560-6C>T | single nucleotide variant | not provided [RCV000959408] | Chr19:13073041 [GRCh38] Chr19:13183855 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.252G>T (p.Arg84=) | single nucleotide variant | Marshall-Smith syndrome [RCV000950551] | Chr19:13025245 [GRCh38] Chr19:13136059 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.600G>A (p.Ala200=) | single nucleotide variant | Marshall-Smith syndrome [RCV000964769] | Chr19:13073087 [GRCh38] Chr19:13183901 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001365902.3(NFIX):c.77del (p.Phe26fs) | deletion | Marshall-Smith syndrome [RCV001199203] | Chr19:13025068 [GRCh38] Chr19:13135882 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser) | single nucleotide variant | Marshall-Smith syndrome [RCV001240287] | Chr19:13081848 [GRCh38] Chr19:13192662 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs) | duplication | Marshall-Smith syndrome [RCV001044662] | Chr19:13025049..13025050 [GRCh38] Chr19:13135863..13135864 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.772del (p.Gln258fs) | deletion | Sotos syndrome 2 [RCV001193079] | Chr19:13073979 [GRCh38] Chr19:13184793 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_002501.4(NFIX):c.357C>T (p.Cys119=) | single nucleotide variant | not provided [RCV000913603] | Chr19:13025350 [GRCh38] Chr19:13136164 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_002501.4(NFIX):c.1248C>G (p.Thr416=) | single nucleotide variant | not provided [RCV000933861] | Chr19:13081849 [GRCh38] Chr19:13192663 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001365902.3(NFIX):c.179dup (p.Leu61fs) | duplication | not provided [RCV001008864] | Chr19:13025171..13025172 [GRCh38] Chr19:13135985..13135986 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_002501.4(NFIX):c.818+1G>A | single nucleotide variant | Sotos syndrome 2 [RCV001193080] | Chr19:13074027 [GRCh38] Chr19:13184841 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter) | single nucleotide variant | Sotos syndrome 2 [RCV001253218] | Chr19:13025180 [GRCh38] Chr19:13135994 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro) | single nucleotide variant | Marshall-Smith syndrome [RCV001068760] | Chr19:13090319 [GRCh38] Chr19:13201133 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu) | single nucleotide variant | Marshall-Smith syndrome [RCV001046374] | Chr19:13025106 [GRCh38] Chr19:13135920 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_001365902.3(NFIX):c.819-484_1079-700del | deletion | Marshall-Smith syndrome [RCV001072121] | Chr19:13075028..13080957 [GRCh38] Chr19:13185842..13191771 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.1188del (p.Gln397fs) | deletion | not provided [RCV001091777] | Chr19:13081787 [GRCh38] Chr19:13192601 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu) | single nucleotide variant | Intellectual disability [RCV001251844]|Marshall-Smith syndrome [RCV001034367] | Chr19:13081836 [GRCh38] Chr19:13192650 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_001365902.3(NFIX):c.316T>C (p.Ser106Pro) | single nucleotide variant | Intellectual disability [RCV001257605] | Chr19:13025309 [GRCh38] Chr19:13136123 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_001365902.3(NFIX):c.113G>A (p.Arg38His) | single nucleotide variant | Sotos syndrome 2 [RCV001254040] | Chr19:13025106 [GRCh38] Chr19:13135920 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_001365902.3(NFIX):c.623-2A>T | single nucleotide variant | not provided [RCV001267976] | Chr19:13073420 [GRCh38] Chr19:13184234 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_001365902.3(NFIX):c.477dup (p.Gly160fs) | duplication | Intellectual disability [RCV001257606] | Chr19:13025466..13025467 [GRCh38] Chr19:13136280..13136281 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_001365902.3(NFIX):c.220del (p.Arg74fs) | deletion | Sotos syndrome 2 [RCV001262356] | Chr19:13025211 [GRCh38] Chr19:13136025 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:7788 | AgrOrtholog |
COSMIC | NFIX | COSMIC |
Ensembl Genes | ENSG00000008441 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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 | |
ENSP00000502554 | ENTREZGENE, UniProtKB/TrEMBL | |
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 | |
ENST00000676441 | ENTREZGENE, UniProtKB/TrEMBL | |
GTEx | ENSG00000008441 | GTEx |
HGNC ID | HGNC:7788 | ENTREZGENE |
Human Proteome Map | NFIX | Human Proteome Map |
InterPro | CTF/NFI | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CTF/NFI_DNA-bd-dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
CTF/NFI_DNA-bd_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
CTF/NFI_DNA-bd_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MAD_homology1_Dwarfin-type | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:4784 | UniProtKB/Swiss-Prot |
NCBI Gene | 4784 | ENTREZGENE |
OMIM | 164005 | OMIM |
602535 | OMIM | |
614753 | OMIM | |
PANTHER | PTHR11492 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | CTF_NFI | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MH1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NfI_DNAbd_pre-N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA31594 | PharmGKB |
PROSITE | CTF_NFI_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CTF_NFI_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | DWA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B4DHW2 | ENTREZGENE, UniProtKB/TrEMBL |
C9JWJ8_HUMAN | 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 |
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 |