KGD4 alpha-ketoglutarate dehydrogenase subunit 4
Information
- Symbol
- KGD4
- Type
- protein-coding
- Description
- alpha-ketoglutarate dehydrogenase subunit 4
- Entrez Gene ID
- 92259
- Genome
- hg19
- Position
- chr5:68,513,587-68,525,985
- Genome
- hg38
- Position
- chr5:69,217,760-69,230,158
- MIM
- 611996 OMIM
- HGNC
- HGNC:16631 HGNC
- Ensembl
- ENSG00000134056 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 1 | 0 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
12 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | DC47 |
| SYNONYM | MRP-S36 |
| SYNONYM | MRPS36 |
| MIM | 611996 OMIM |
| HGNC | HGNC:16631 HGNC |
| Ensembl | ENSG00000134056 Ensembl |
| AllianceGenome | HGNC:16631 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000256441.5 | hg38 | chr5 | 69,217,760 | 69,230,158 | 12,399 |
| ENST00000512880.5 | hg38 | chr5 | 69,217,832 | 69,229,875 | 12,044 |
| ENST00000602380.1 | hg38 | chr5 | 69,217,832 | 69,229,875 | 12,044 |
| ENST00000256441.5 | hg19 | chr5 | 68,513,587 | 68,525,985 | 12,399 |
| ENST00000512880.5 | hg19 | chr5 | 68,513,659 | 68,525,702 | 12,044 |
| ENST00000602380.1 | hg19 | chr5 | 68,513,659 | 68,525,702 | 12,044 |
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