chr7:94584980:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:94,214,292-94,285,884 |
| hg38 | chr7:94,584,980-94,656,572 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Chromosome Aberrations | NA | GAD | Detail | |
| 0.002 | Chromosome Deletion | NA | GAD | Detail | |
| <0.001 | Mental Depression | NA | BeFree | Detail | |
| <0.001 | depressive disorder | NA | BeFree | Detail | |
| 0.018 | dystonia | Bilateral globus pallidus internus deep brain stimulation can be effective in am... | BeFree,GAD,LHGDN | 24812007 | Detail |
| <0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | Globus Hystericus | NA | BeFree | Detail | |
| 0.005 | Movement Disorders | NA | BeFree,LHGDN | Detail | |
| 0.003 | Moyamoya disease | NA | LHGDN | Detail | |
| <0.001 | muscular dystrophy | NA | BeFree | Detail | |
| 0.014 | Myoclonus | Bilateral globus pallidus internus deep brain stimulation can be effective in am... | BeFree,GAD,LHGDN | 24812007 | Detail |
| <0.001 | obesity | We examined parental preconceptional obesity in relation to DNA methylation prof... | BeFree | 24158121 | Detail |
| 0.004 | obsessive-compulsive disorder | NA | BeFree,LHGDN | Detail | |
| 0.001 | osteochondritis dissecans | NA | BeFree | Detail | |
| <0.001 | Seizures | NA | BeFree | Detail | |
| 0.003 | Gilles de la Tourette syndrome | NA | BeFree,LHGDN | Detail | |
| <0.001 | Tremor | NA | BeFree | Detail | |
| <0.001 | Russell-Silver syndrome | NA | BeFree | Detail | |
| <0.001 | Muscle twitch | NA | BeFree | Detail | |
| <0.001 | Psychiatric symptom | NA | BeFree | Detail | |
| 0.002 | Miller Dieker syndrome | Our data confirms that SGCE mutations are most commonly identified in MDS patien... | BeFree | 25209853 | Detail |
| <0.001 | Benign hereditary chorea | NA | BeFree | Detail | |
| 0.007 | Dystonia Disorders | Bilateral globus pallidus internus deep brain stimulation can be effective in am... | BeFree,GAD | 24812007 | Detail |
| <0.001 | Motor symptoms | NA | BeFree | Detail | |
| <0.001 | Muscular Dystrophies, Limb-Girdle | NA | BeFree | Detail | |
| 0.003 | Dystonia, Primary | NA | BeFree,GAD | Detail | |
| <0.001 | Familial Dystonia | NA | BeFree | Detail | |
| 0.579 | myoclonic dystonia | SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clin... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25209853 | Detail |
| 0.579 | myoclonic dystonia | Two siblings with M-D due to the same SGCE deletion mutation were evaluated with... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25406829 | Detail |
| 0.579 | myoclonic dystonia | Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which ... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25643588 | Detail |
| 0.579 | myoclonic dystonia | The clinical presentation of the KCTD17-mutated cases was distinct from the phen... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25983243 | Detail |
| <0.001 | Paroxysmal kinesigenic choreoathetosis | NA | BeFree | Detail | |
| <0.001 | segmental dystonia | NA | BeFree | Detail | |
| <0.001 | Alcoholic Intoxication, Chronic | NA | BeFree | Detail | |
| <0.001 | Beckwith-Wiedemann syndrome | NA | BeFree | Detail | |
| <0.001 | Mental disorders | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bilateral globus pallidus internus deep brain stimulation can be effective in ameliorating epsilon s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bilateral globus pallidus internus deep brain stimulation can be effective in ameliorating epsilon s... | DisGeNET | Detail |
| We examined parental preconceptional obesity in relation to DNA methylation profiles at multiple hum... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our data confirms that SGCE mutations are most commonly identified in MDS patients with (1) age at o... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bilateral globus pallidus internus deep brain stimulation can be effective in ameliorating epsilon s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of g... | DisGeNET | Detail |
| Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia... | DisGeNET | Detail |
| Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only th... | DisGeNET | Detail |
| The clinical presentation of the KCTD17-mutated cases was distinct from the phenotype usually observ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr7:94,584,980-94,656,572
- Variant Type
- snv
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