chr14:50704281:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:50,704,281-50,778,947 |
| hg38 | chr14:50,237,563-50,312,229 |
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 |
|---|---|---|---|---|---|
| 0.120 | epilepsy | NA | CTD_human | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Leukoencephalopathies | NA | BeFree | Detail | |
| 0.120 | Congenital neurologic anomalies | NA | CTD_human | Detail | |
| 0.362 | L-2-hydroxyglutaric aciduria | Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characte... | BeFree,CLINVAR,ORPHANET,UNIPROT | 24573090 | Detail |
| 0.362 | L-2-hydroxyglutaric aciduria | The detailed description of clinical manifestations and L2HGDH mutation in this ... | BeFree,CLINVAR,ORPHANET,UNIPROT | 24894778 | Detail |
| 0.122 | combined D-2- and L-2-hydroxyglutaric aciduria | Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characte... | BeFree,CTD_human | 24573090 | Detail |
| 0.122 | combined D-2- and L-2-hydroxyglutaric aciduria | The detailed description of clinical manifestations and L2HGDH mutation in this ... | BeFree,CTD_human | 24894778 | Detail |
| 0.120 | intellectual disability | NA | CTD_human | Detail | |
| 0.003 | Brain Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | renal cell carcinoma | In addition, L2HGDH expression in RCC cells reduces histone methylation and supp... | BeFree | 25182153 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidativ... | DisGeNET | Detail |
| The detailed description of clinical manifestations and L2HGDH mutation in this study is useful for ... | DisGeNET | Detail |
| Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidativ... | DisGeNET | Detail |
| The detailed description of clinical manifestations and L2HGDH mutation in this study is useful for ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In addition, L2HGDH expression in RCC cells reduces histone methylation and suppresses in vitro tumo... | 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
- hg19
- Position
- chr14:50,704,281-50,778,947
- Variant Type
- snv
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