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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) |
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InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Weight Gain | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19030233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsPhenotype Annotations
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References - curated| 1. | OMIM Disease Annotation Pipeline |
| 2. | Pipeline to import KEGG annotations from KEGG into RGD |
| 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 | 10801173 10931155 11230739 11826415 12477932 15146197 16230358 16344560 17142313 17194211 19608919 19683415 20471133 20623998 20920667 21873635 22190034 23112913 23667531 23966103 25190812 25437307 25609649 26115735 26186194 26673895 26888482 27173435 27432908 27576344 28133863 28514442 28675297 29845934 30561431 32296183 32353859 |
Comparative Map Data| SEPSECS (Homo sapiens - human) |
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| Sepsecs (Mus musculus - house mouse) |
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| Sepsecs (Rattus norvegicus - Norway rat) |
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| Sepsecs (Chinchilla lanigera - long-tailed chinchilla) |
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| SEPSECS (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SEPSECS (Canis lupus familiaris - dog) |
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| Sepsecs (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SEPSECS (Sus scrofa - pig) |
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| SEPSECS (Chlorocebus sabaeus - African green monkey) |
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| Sepsecs (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| SHGC-79143 |
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| SHGC-105226 |
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| SHGC-64855 |
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| RH46210 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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RNA-SEQ Expression| 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 | 279 | 53 | 626 | 314 | 676 | 311 | 869 | 50 | 425 | 147 | 432 | 515 | 7 | 133 | 588 | 1 | ||
| Low | 2160 | 2740 | 1100 | 310 | 1106 | 154 | 3488 | 2118 | 3300 | 272 | 1028 | 1098 | 167 | 1 | 1071 | 2200 | 5 | 2 |
| Below cutoff | 198 | 169 | 29 | 9 |
Nucleotide Sequences| RefSeq Transcripts | NG_028222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_016955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011513846 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011513847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011513848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017008277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017008278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC007073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC104662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF146396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF282065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ238617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ277541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK292476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL133065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AW515989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC012188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC023539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC117202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC126213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX648976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN429794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA155173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000358971 ⟹ ENSP00000351857 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000382103 ⟹ ENSP00000371535 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000503150 ⟹ ENSP00000423850 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000505513 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000513285 ⟹ ENSP00000423361 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000514585 ⟹ ENSP00000421880 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000515272 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_016955 ⟹ NP_058651 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AAATACGCCAACTTCCTCCTGGAGCGCCATCTGAGAAGGTCTGCGCATGTGCACGAACGAGAAGhide sequence |
| RefSeq Acc Id: | XM_011513846 ⟹ XP_011512148 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
AGCACCTCATACGGCTGCTTCTGGAGAAGAGTCTCGCTCTTTCGCCCAGGCTGGAATGCAGTGThide sequence |
| RefSeq Acc Id: | XM_011513847 ⟹ XP_011512149 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CTGTCGGTCCCCTCCCCAGCCGCCGCGACCCCGGGGCTCTGGCTCCGCCGGGCGTCCCCGCTGGhide sequence |
| RefSeq Acc Id: | XM_011513848 ⟹ XP_011512150 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
AGTGCTCCCGCTTATTCGCCACTGTCGCCACCGCTGTCATGAACCGCGAGAGCTTCGCGGCGGGhide sequence |
| RefSeq Acc Id: | XM_017008277 ⟹ XP_016863766 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
AGGTCTGCGCATGTGCACGAACGAGAAGTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTThide sequence |
| RefSeq Acc Id: | XM_017008278 ⟹ XP_016863767 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
TGCACGAACGAGAAGTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGTCCCAAGGCGChide sequence |
Protein Sequences| Protein RefSeqs | NP_058651 | (Get FASTA) | NCBI Sequence Viewer |
| XP_011512148 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011512149 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011512150 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016863766 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016863767 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD33963 | (Get FASTA) | NCBI Sequence Viewer |
| AAG00491 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH23539 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI17203 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI26214 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF85165 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB62209 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB89517 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW92831 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW92832 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW92833 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW92834 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW92835 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9HD40 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_058651 ⟸ NM_016955 |
| - UniProtKB: | Q9HD40 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKGKCPENGWDESTLELFLHELAIMDSNhide sequence |
| RefSeq Acc Id: | XP_011512150 ⟸ XM_011513848 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | Q9HD40 (UniProtKB/Swiss-Prot), A1A4F3 (UniProtKB/TrEMBL) |
| - Sequence: |
MDSNNFLGNCGVGEREGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDhide sequence |
| RefSeq Acc Id: | XP_011512148 ⟸ XM_011513846 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q9HD40 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQCDDLGSLQPPPPGFTPFACLSLPSSWDYRRPPPHPGKCPENGWDESTLELFLHELAIMDSNNhide sequence |
| RefSeq Acc Id: | XP_011512149 ⟸ XM_011513847 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MVFVDCMLTRTTSFPRNFTGLPPASVHGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGERhide sequence |
| RefSeq Acc Id: | XP_016863766 ⟸ XM_017008277 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKSLALSPRLECSVTISAHCSLRLPGSRhide sequence |
| RefSeq Acc Id: | XP_016863767 ⟸ XM_017008278 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MATGMSLTLCFLTLRHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVhide sequence |
| RefSeq Acc Id: | ENSP00000423850 ⟸ ENST00000503150 |
| RefSeq Acc Id: | ENSP00000423361 ⟸ ENST00000513285 |
| RefSeq Acc Id: | ENSP00000421880 ⟸ ENST00000514585 |
| RefSeq Acc Id: | ENSP00000371535 ⟸ ENST00000382103 |
| RefSeq Acc Id: | ENSP00000351857 ⟸ ENST00000358971 |
Promoters| RGD ID: | 6802700 | ||||||||
| Promoter ID: | HG_KWN:47984 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
| Transcripts: | ENST00000302922, ENST00000382103, NM_016955, UC003GRI.1, UC003GRJ.1 | ||||||||
| Position: |
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| RGD ID: | 6867150 | ||||||||
| Promoter ID: | EPDNEW_H6740 | ||||||||
| Type: | initiation region | ||||||||
| Name: | SEPSECS_1 | ||||||||
| Description: | Sep (O-phosphoserine) tRNA:Sec tRNA synthase | ||||||||
| 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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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000000436] | Chr4:25144799 [GRCh38] Chr4:25146421 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000000437] | Chr4:25152049 [GRCh38] Chr4:25153671 [GRCh37] Chr4:4p15.2 |
pathogenic |
| GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 | copy number loss | See cases [RCV000051642] | Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
| GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] | Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
| GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 | copy number gain | See cases [RCV000051753] | Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
| GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 | copy number gain | See cases [RCV000051757] | Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
| GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|See cases [RCV000053263] | Chr4:21056309..26732162 [GRCh38] Chr4:21057932..26733784 [GRCh37] Chr4:20667030..26342882 [NCBI36] Chr4:4p15.31-15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.535A>G (p.Met179Val) | single nucleotide variant | not provided [RCV000658062] | Chr4:25156049 [GRCh38] Chr4:25157671 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.489G>A (p.Lys163=) | single nucleotide variant | not provided [RCV000118323] | Chr4:25156095 [GRCh38] Chr4:25157717 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000392056]|not provided [RCV000889945]|not specified [RCV000118324] | Chr4:25151984 [GRCh38] Chr4:25153606 [GRCh37] Chr4:4p15.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_016955.4(SEPSECS):c.1211+7A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000400873]|not specified [RCV000118325] | Chr4:25125687 [GRCh38] Chr4:25127309 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
| NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000284502]|not specified [RCV000118326] | Chr4:25124081 [GRCh38] Chr4:25125703 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
| NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145216]|not provided [RCV000966905]|not specified [RCV000118327] | Chr4:25124043 [GRCh38] Chr4:25125665 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
| NM_016955.4(SEPSECS):c.935-5T>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000364027]|not specified [RCV000118328] | Chr4:25144870 [GRCh38] Chr4:25146492 [GRCh37] Chr4:4p15.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000170363] | Chr4:25123971 [GRCh38] Chr4:25125593 [GRCh37] Chr4:4p15.2 |
pathogenic |
| GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 | copy number gain | See cases [RCV000133677] | Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
| GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1 | copy number loss | See cases [RCV000135404] | Chr4:23862000..27685546 [GRCh38] Chr4:23863623..27687168 [GRCh37] Chr4:23472721..27296266 [NCBI36] Chr4:4p15.2 |
pathogenic |
| GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 | copy number loss | See cases [RCV000135806] | Chr4:16925022..32113076 [GRCh38] Chr4:16926645..32114698 [GRCh37] Chr4:16535743..31758596 [NCBI36] Chr4:4p15.32-15.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 | copy number gain | See cases [RCV000137261] | Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12 |
pathogenic |
| NM_018176.3(LGI2):c.-473617_-693dup | duplication | Gestational diabetes mellitus uncontrolled [RCV000161338] | Chr4:25031386..25504310 [GRCh38] Chr4:25033008..25505932 [GRCh37] Chr4:4p15.2 |
not provided |
| NM_016955.4(SEPSECS):c.1028_1120+1del | deletion | Cerebellar ataxia [RCV000162172] | Chr4:25127263..25127356 [GRCh38] Chr4:25128885..25128978 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| NM_016955.4(SEPSECS):c.115-18dup | duplication | not specified [RCV000193641] | Chr4:25159110..25159111 [GRCh38] Chr4:25160732..25160733 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.*2840T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000262653] | Chr4:25121091 [GRCh38] Chr4:25122713 [GRCh37] Chr4:4p15.2 |
benign|uncertain significance |
| NM_016955.4(SEPSECS):c.805-1dup | duplication | Pontocerebellar hypoplasia type 2D [RCV000625974]|not provided [RCV000396553] | Chr4:25145129..25145130 [GRCh38] Chr4:25146751..25146752 [GRCh37] Chr4:4p15.2 |
pathogenic|likely pathogenic |
| NM_016955.4(SEPSECS):c.1271C>A (p.Ser424Ter) | single nucleotide variant | not specified [RCV000194695] | Chr4:25124166 [GRCh38] Chr4:25125788 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 | copy number loss | See cases [RCV000240003] | Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
| NM_016955.4(SEPSECS):c.*253A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000279676] | Chr4:25123678 [GRCh38] Chr4:25125300 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 | copy number gain | See cases [RCV000240562] | Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
| NM_016955.4(SEPSECS):c.*2645A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000268636] | Chr4:25121286 [GRCh38] Chr4:25122908 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys) | single nucleotide variant | not provided [RCV000520472] | Chr4:25156093 [GRCh38] Chr4:25157715 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | See cases [RCV000449078] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
| NM_016955.4(SEPSECS):c.*610G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000266311] | Chr4:25123321 [GRCh38] Chr4:25124943 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1 | copy number loss | See cases [RCV000240221] | Chr4:23458442..29252060 [GRCh37] Chr4:4p15.2-15.1 |
pathogenic |
| NM_016955.4(SEPSECS):c.*454C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000272625] | Chr4:25123477 [GRCh38] Chr4:25125099 [GRCh37] Chr4:4p15.2 |
benign|uncertain significance |
| NM_016955.4(SEPSECS):c.*271G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000333685] | Chr4:25123660 [GRCh38] Chr4:25125282 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1041T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000300629] | Chr4:25122890 [GRCh38] Chr4:25124512 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*236_*237insTTT | insertion | Pontoneocerebellar hypoplasia [RCV000334763] | Chr4:25123694..25123695 [GRCh38] Chr4:25125316..25125317 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*2694A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000377149] | Chr4:25121237 [GRCh38] Chr4:25122859 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*638G>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000301729] | Chr4:25123293 [GRCh38] Chr4:25124915 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*1614T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000336244] | Chr4:25122317 [GRCh38] Chr4:25123939 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*807A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000355435] | Chr4:25123124 [GRCh38] Chr4:25124746 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.*2990G>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000357470] | Chr4:25120941 [GRCh38] Chr4:25122563 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.1120+12T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000304645]|not specified [RCV000434822] | Chr4:25127252 [GRCh38] Chr4:25128874 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
| NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000339643] | Chr4:25124161 [GRCh38] Chr4:25125783 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*2209A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000288520] | Chr4:25121722 [GRCh38] Chr4:25123344 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*2123A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000383691] | Chr4:25121808 [GRCh38] Chr4:25123430 [GRCh37] Chr4:4p15.2 |
benign|uncertain significance |
| NM_016955.4(SEPSECS):c.*681A>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000407194] | Chr4:25123250 [GRCh38] Chr4:25124872 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
| NM_016955.4(SEPSECS):c.*2300A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000323677] | Chr4:25121631 [GRCh38] Chr4:25123253 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*455C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000362191] | Chr4:25123476 [GRCh38] Chr4:25125098 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*354C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000292446] | Chr4:25123577 [GRCh38] Chr4:25125199 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*371_*372del | deletion | Pontoneocerebellar hypoplasia [RCV000386976] | Chr4:25123559..25123560 [GRCh38] Chr4:25125181..25125182 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*254_*257del | deletion | Pontoneocerebellar hypoplasia [RCV000388145] | Chr4:25123674..25123677 [GRCh38] Chr4:25125296..25125299 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*3775A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000346071] | Chr4:25120156 [GRCh38] Chr4:25121778 [GRCh37] Chr4:4p15.2 |
benign|uncertain significance |
| NM_016955.4(SEPSECS):c.*3848C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000309990] | Chr4:25120083 [GRCh38] Chr4:25121705 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
| NM_016955.4(SEPSECS):c.269+9_269+12del | deletion | Pontoneocerebellar hypoplasia [RCV000310046]|not provided [RCV000923630] | Chr4:25158941..25158944 [GRCh38] Chr4:25160563..25160566 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
| NM_016955.4(SEPSECS):c.*3402A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000310990] | Chr4:25120529 [GRCh38] Chr4:25122151 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
| NM_016955.4(SEPSECS):c.*3234T>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000370355] | Chr4:25120697 [GRCh38] Chr4:25122319 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.3(SEPSECS):c.-160C>T | single nucleotide variant | Pontoneocerebellar hypoplasia [RCV000370419] | Chr4:25160529 [GRCh38] Chr4:25162151 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.3(SEPSECS):c.-140dupT | duplication | Pontoneocerebellar hypoplasia [RCV000274750] | Chr4:25160508..25160509 [GRCh38] Chr4:25162130..25162131 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.3(SEPSECS):c.-141_-140dupTT | duplication | Pontoneocerebellar hypoplasia [RCV000329745] | Chr4:25160508..25160509 [GRCh38] Chr4:25162130..25162131 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*3134C>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000275799] | Chr4:25120797 [GRCh38] Chr4:25122419 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*112T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000399970] | Chr4:25123819 [GRCh38] Chr4:25125441 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1622T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000400606] | Chr4:25122309 [GRCh38] Chr4:25123931 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*2250A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000382921] | Chr4:25121681 [GRCh38] Chr4:25123303 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*2179T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000347758] | Chr4:25121752 [GRCh38] Chr4:25123374 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.3(SEPSECS):c.-119_-115delGTTTT | microsatellite | Pontoneocerebellar hypoplasia [RCV000364681] | Chr4:25160484..25160488 [GRCh38] Chr4:25162106..25162110 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1727G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000294013] | Chr4:25122204 [GRCh38] Chr4:25123826 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1635G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000348908] | Chr4:25122296 [GRCh38] Chr4:25123918 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1574T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000407211] | Chr4:25122357 [GRCh38] Chr4:25123979 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*2708G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000322497] | Chr4:25121223 [GRCh38] Chr4:25122845 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*3082A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000298085] | Chr4:25120849 [GRCh38] Chr4:25122471 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*3402_*3404AAT[1] | microsatellite | Pontoneocerebellar hypoplasia [RCV000392470] | Chr4:25120524..25120526 [GRCh38] Chr4:25122146..25122148 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*470T>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000326174] | Chr4:25123461 [GRCh38] Chr4:25125083 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*420G>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000327759] | Chr4:25123511 [GRCh38] Chr4:25125133 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1620C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000314009] | Chr4:25122311 [GRCh38] Chr4:25123933 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*612G>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000361034] | Chr4:25123319 [GRCh38] Chr4:25124941 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.294C>T (p.Ser98=) | single nucleotide variant | not provided [RCV000930356]|not specified [RCV000603532] | Chr4:25156950 [GRCh38] Chr4:25158572 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.388+5G>A | single nucleotide variant | Congenital cerebellar hypoplasia [RCV000415364] | Chr4:25156851 [GRCh38] Chr4:25158473 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| NC_000004.11:g.25146752C>CC | single nucleotide variant | not provided [RCV000734589] | Chr4:25146752 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 | copy number gain | See cases [RCV000446451] | Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.1464A>G (p.Leu488=) | single nucleotide variant | not specified [RCV000434870] | Chr4:25123973 [GRCh38] Chr4:25125595 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.388+3A>G | single nucleotide variant | not provided [RCV000428576] | Chr4:25156853 [GRCh38] Chr4:25158475 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1 | copy number loss | See cases [RCV000445756] | Chr4:23790131..32302608 [GRCh37] Chr4:4p15.2-15.1 |
likely pathogenic |
| NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys) | single nucleotide variant | not provided [RCV000485487] | Chr4:25144778 [GRCh38] Chr4:25146400 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp) | single nucleotide variant | not provided [RCV000498150] | Chr4:25155115 [GRCh38] Chr4:25156737 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.548-1G>A | single nucleotide variant | not provided [RCV000498347] | Chr4:25155152 [GRCh38] Chr4:25156774 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 | copy number gain | See cases [RCV000511193] | Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1 |
pathogenic |
| NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp) | single nucleotide variant | Inborn genetic diseases [RCV000623270] | Chr4:25156889 [GRCh38] Chr4:25158511 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| NM_016955.4(SEPSECS):c.612dup (p.Val205fs) | duplication | Inborn genetic diseases [RCV000624315] | Chr4:25155086..25155087 [GRCh38] Chr4:25156708..25156709 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000625975] | Chr4:25145092 [GRCh38] Chr4:25146714 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp) | single nucleotide variant | not provided [RCV000658063] | Chr4:25156195 [GRCh38] Chr4:25157817 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | not provided [RCV000682363] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
| GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 | copy number loss | not provided [RCV000682373] | Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 | copy number gain | not provided [RCV000743201] | Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
| GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 | copy number gain | not provided [RCV000743154] | Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
| NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) | single nucleotide variant | not provided [RCV000760845] | Chr4:25151998 [GRCh38] Chr4:25153620 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| NM_016955.4(SEPSECS):c.389-10T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001148075] | Chr4:25156205 [GRCh38] Chr4:25157827 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.772C>T (p.Gln258Ter) | single nucleotide variant | not provided [RCV001057337] | Chr4:25151992 [GRCh38] Chr4:25153614 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.181A>G (p.Met61Val) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001030789] | Chr4:25159041 [GRCh38] Chr4:25160663 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*352A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149512] | Chr4:25123579 [GRCh38] Chr4:25125201 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*328A>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149513] | Chr4:25123603 [GRCh38] Chr4:25125225 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1031G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147069] | Chr4:25122900 [GRCh38] Chr4:25124522 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.474A>G (p.Lys158=) | single nucleotide variant | not provided [RCV000921535] | Chr4:25156110 [GRCh38] Chr4:25157732 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1215T>C (p.Val405=) | single nucleotide variant | not provided [RCV000982624] | Chr4:25124222 [GRCh38] Chr4:25125844 [GRCh37] Chr4:4p15.2 |
likely benign |
| NC_000004.12:g.(?_25156846)_(25156984_?)del | deletion | not provided [RCV001031090] | Chr4:25158468..25158606 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NC_000004.12:g.(?_25151950)_(25152072_?)del | deletion | not provided [RCV001031973] | Chr4:25153572..25153694 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.501G>A (p.Trp167Ter) | single nucleotide variant | not provided [RCV001070148] | Chr4:25156083 [GRCh38] Chr4:25157705 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000779439] | Chr4:25124044 [GRCh38] Chr4:25125666 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) | copy number loss | not provided [RCV000767707] | Chr4:12778849..27760141 [GRCh37] Chr4:4p15.33-15.1 |
pathogenic |
| NM_016955.4(SEPSECS):c.582A>G (p.Glu194=) | single nucleotide variant | not provided [RCV000942683] | Chr4:25155117 [GRCh38] Chr4:25156739 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1027-9T>C | single nucleotide variant | not provided [RCV000927879] | Chr4:25127366 [GRCh38] Chr4:25128988 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1027-7G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147180]|not provided [RCV000861024] | Chr4:25127364 [GRCh38] Chr4:25128986 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
| NM_016955.4(SEPSECS):c.388+10G>A | single nucleotide variant | not provided [RCV000861615] | Chr4:25156846 [GRCh38] Chr4:25158468 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000984512] | Chr4:25144800 [GRCh38] Chr4:25146422 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147178]|not provided [RCV000860771] | Chr4:25125777 [GRCh38] Chr4:25127399 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) | single nucleotide variant | not provided [RCV000799457] | Chr4:25156955 [GRCh38] Chr4:25158577 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.388+9C>T | single nucleotide variant | not provided [RCV000914047] | Chr4:25156847 [GRCh38] Chr4:25158469 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.388+256G>A | single nucleotide variant | not provided [RCV000828461] | Chr4:25156600 [GRCh38] Chr4:25158222 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.588C>T (p.Asp196=) | single nucleotide variant | not provided [RCV000976709] | Chr4:25155111 [GRCh38] Chr4:25156733 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000791203] | Chr4:25124163 [GRCh38] Chr4:25125785 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.701+137T>C | single nucleotide variant | not provided [RCV000828940] | Chr4:25154861 [GRCh38] Chr4:25156483 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147177] | Chr4:25125724 [GRCh38] Chr4:25127346 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*2480T>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149414] | Chr4:25121451 [GRCh38] Chr4:25123073 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NC_000004.12:g.25160634A>C | single nucleotide variant | not provided [RCV000829698] | Chr4:25160634 [GRCh38] Chr4:25162256 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.*2966A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147869] | Chr4:25120965 [GRCh38] Chr4:25122587 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.*2916A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147871] | Chr4:25121015 [GRCh38] Chr4:25122637 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.1121-1G>T | single nucleotide variant | not provided [RCV000792598] | Chr4:25125785 [GRCh38] Chr4:25127407 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| NM_016955.4(SEPSECS):c.*3870A>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001146962] | Chr4:25120061 [GRCh38] Chr4:25121683 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.1027-17A>G | single nucleotide variant | not provided [RCV000828025] | Chr4:25127374 [GRCh38] Chr4:25128996 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.270-154A>G | single nucleotide variant | not provided [RCV000830918] | Chr4:25157128 [GRCh38] Chr4:25158750 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.1026+224A>G | single nucleotide variant | not provided [RCV000830919] | Chr4:25144550 [GRCh38] Chr4:25146172 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001148076]|not provided [RCV000939971] | Chr4:25160325 [GRCh38] Chr4:25161947 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
| NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly) | single nucleotide variant | not provided [RCV000861450] | Chr4:25145019 [GRCh38] Chr4:25146641 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.269+85T>G | single nucleotide variant | not provided [RCV000832323] | Chr4:25158868 [GRCh38] Chr4:25160490 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*2618C>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149413] | Chr4:25121313 [GRCh38] Chr4:25122935 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*223G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149515] | Chr4:25123708 [GRCh38] Chr4:25125330 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.*1122C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147068] | Chr4:25122809 [GRCh38] Chr4:25124431 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.420T>A (p.Val140=) | single nucleotide variant | not provided [RCV000975670] | Chr4:25156164 [GRCh38] Chr4:25157786 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.449dup (p.Cys151fs) | duplication | not provided [RCV001056075] | Chr4:25156134..25156135 [GRCh38] Chr4:25157756..25157757 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145217] | Chr4:25124111 [GRCh38] Chr4:25125733 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001175102] | Chr4:25160275 [GRCh38] Chr4:25161897 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*327G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149514] | Chr4:25123604 [GRCh38] Chr4:25125226 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.652_653del (p.Leu218fs) | deletion | not provided [RCV001009054] | Chr4:25155046..25155047 [GRCh38] Chr4:25156668..25156669 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
| NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) | single nucleotide variant | not provided [RCV000861527] | Chr4:25144777 [GRCh38] Chr4:25146399 [GRCh37] Chr4:4p15.2 |
benign |
| NM_016955.4(SEPSECS):c.1212-10C>G | single nucleotide variant | not provided [RCV000977433] | Chr4:25124235 [GRCh38] Chr4:25125857 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly) | single nucleotide variant | not provided [RCV000910152] | Chr4:25124146 [GRCh38] Chr4:25125768 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1089G>A (p.Leu363=) | single nucleotide variant | not provided [RCV000975541] | Chr4:25127295 [GRCh38] Chr4:25128917 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.367C>T (p.Leu123=) | single nucleotide variant | not provided [RCV000975629] | Chr4:25156877 [GRCh38] Chr4:25158499 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1383A>G (p.Val461=) | single nucleotide variant | not provided [RCV000975692] | Chr4:25124054 [GRCh38] Chr4:25125676 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1212-7C>T | single nucleotide variant | not provided [RCV000931968] | Chr4:25124232 [GRCh38] Chr4:25125854 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.1290T>C (p.Pro430=) | single nucleotide variant | not provided [RCV000928840] | Chr4:25124147 [GRCh38] Chr4:25125769 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.60G>A (p.Gln20=) | single nucleotide variant | not provided [RCV000977601] | Chr4:25160310 [GRCh38] Chr4:25161932 [GRCh37] Chr4:4p15.2 |
likely benign |
| NM_016955.4(SEPSECS):c.*1591G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147067] | Chr4:25122340 [GRCh38] Chr4:25123962 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1008T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147070] | Chr4:25122923 [GRCh38] Chr4:25124545 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.1120+8C>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147179] | Chr4:25127256 [GRCh38] Chr4:25128878 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1 | copy number loss | not provided [RCV001005527] | Chr4:20406475..29134345 [GRCh37] Chr4:4p15.31-15.1 |
pathogenic |
| GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 | copy number gain | not provided [RCV001005510] | Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.*1659C>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145115] | Chr4:25122272 [GRCh38] Chr4:25123894 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*1648G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145116] | Chr4:25122283 [GRCh38] Chr4:25123905 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.443dup (p.Thr149fs) | duplication | not provided [RCV001063704] | Chr4:25156140..25156141 [GRCh38] Chr4:25157762..25157763 [GRCh37] Chr4:4p15.2 |
pathogenic |
| NM_016955.4(SEPSECS):c.*1637G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145117] | Chr4:25122294 [GRCh38] Chr4:25123916 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145215] | Chr4:25123932 [GRCh38] Chr4:25125554 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 | copy number gain | See cases [RCV001194594] | Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
| NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145218] | Chr4:25124180 [GRCh38] Chr4:25125802 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147181] | Chr4:25155065 [GRCh38] Chr4:25156687 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*2921A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147870] | Chr4:25121010 [GRCh38] Chr4:25122632 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.*2871T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147872] | Chr4:25121060 [GRCh38] Chr4:25122682 [GRCh37] Chr4:4p15.2 |
uncertain significance |
| NM_016955.4(SEPSECS):c.389-8A>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001148074] | Chr4:25156203 [GRCh38] Chr4:25157825 [GRCh37] Chr4:4p15.2 |
uncertain significance |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:30605 | AgrOrtholog |
| COSMIC | SEPSECS | COSMIC |
| Ensembl Genes | ENSG00000109618 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000351857 | UniProtKB/TrEMBL |
| ENSP00000371535 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000421880 | UniProtKB/Swiss-Prot | |
| ENSP00000423361 | UniProtKB/TrEMBL | |
| ENSP00000423850 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000358971 | UniProtKB/TrEMBL |
| ENST00000382103 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000503150 | UniProtKB/TrEMBL | |
| ENST00000513285 | UniProtKB/TrEMBL | |
| ENST00000514585 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.40.640.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000109618 | GTEx |
| HGNC ID | HGNC:30605 | ENTREZGENE |
| Human Proteome Map | SEPSECS | Human Proteome Map |
| InterPro | Peroxidases_heam-ligand_BS | UniProtKB/Swiss-Prot |
| PyrdxlP-dep_Trfase | UniProtKB/Swiss-Prot | |
| PyrdxlP-dep_Trfase_major | UniProtKB/Swiss-Prot | |
| Sec-tRNA_Se_transferase | UniProtKB/Swiss-Prot | |
| SepSecS/SepCysS | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:51091 | UniProtKB/Swiss-Prot |
| NCBI Gene | 51091 | ENTREZGENE |
| OMIM | 613009 | OMIM |
| 613811 | OMIM | |
| PANTHER | PTHR12944 | UniProtKB/Swiss-Prot |
| Pfam | SepSecS | UniProtKB/Swiss-Prot |
| PharmGKB | PA162402915 | PharmGKB |
| PIRSF | SepSecS | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF53383 | UniProtKB/Swiss-Prot |
| TIGRFAMs | selenium_SpcS | UniProtKB/Swiss-Prot |
| UniGene | Hs.253305 | ENTREZGENE |
| UniProt | A1A4F3 | ENTREZGENE, UniProtKB/TrEMBL |
| D6R969_HUMAN | UniProtKB/TrEMBL | |
| H0Y9D2_HUMAN | UniProtKB/TrEMBL | |
| J3KP25_HUMAN | UniProtKB/TrEMBL | |
| Q9HD40 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | A8K8W1 | UniProtKB/Swiss-Prot |
| Q0D2P3 | UniProtKB/Swiss-Prot | |
| Q17RT1 | UniProtKB/Swiss-Prot | |
| Q9NXZ5 | UniProtKB/Swiss-Prot | |
| Q9UGM9 | UniProtKB/Swiss-Prot | |
| Q9Y353 | UniProtKB/Swiss-Prot |
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| More on SEPSECS | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
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|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1606287 |
| Created: | 2007-04-29 |
| Species: | Homo sapiens |
| Last Modified: | 2020-08-04 |
| 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.
