MICOS13 mitochondrial contact site and cristae organizing system subunit 13
Information
- Symbol
- MICOS13
- Type
- protein-coding
- Description
- mitochondrial contact site and cristae organizing system subunit 13
- Entrez Gene ID
- 125988
- Genome
- hg19
- Position
- chr19:5,678,433-5,680,263
- Genome
- hg38
- Position
- chr19:5,678,422-5,680,252
- MIM
- 616658 OMIM
- HGNC
- HGNC:33702 HGNC
- Ensembl
- ENSG00000174917 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 2 |
| Likely benign | 0 | 28 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
4 |
 |
42 |
 |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 | C19orf70 |
| SYNONYM | MIC12 |
| SYNONYM | MIC13 |
| SYNONYM | P117 |
| SYNONYM | QIL1 |
| MIM | 616658 OMIM |
| HGNC | HGNC:33702 HGNC |
| Ensembl | ENSG00000174917 Ensembl |
| AllianceGenome | HGNC:33702 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000590389.5 | hg38 | chr19 | 5,678,832 | 5,680,194 | 1,363 |
| ENST00000587589.1 | hg38 | chr19 | 5,678,915 | 5,680,488 | 1,574 |
| ENST00000587950.5 | hg38 | chr19 | 5,678,422 | 5,680,252 | 1,831 |
| ENST00000309324.9 | hg38 | chr19 | 5,678,422 | 5,680,516 | 2,095 |
| ENST00000587950.5 | hg19 | chr19 | 5,678,433 | 5,680,263 | 1,831 |
| ENST00000309324.9 | hg19 | chr19 | 5,678,433 | 5,680,527 | 2,095 |
| ENST00000590389.5 | hg19 | chr19 | 5,678,843 | 5,680,205 | 1,363 |
| ENST00000587589.1 | hg19 | chr19 | 5,678,926 | 5,680,499 | 1,574 |
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