OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3
Information
- Symbol
- OPA3
- Type
- protein-coding
- Description
- outer mitochondrial membrane lipid metabolism regulator OPA3
- Entrez Gene ID
- 80207
- Genome
- hg19
- Position
- chr19:46,031,025-46,088,060
- Genome
- hg38
- Position
- chr19:45,527,767-45,584,802
- MIM
- 606580 OMIM
- HGNC
- HGNC:8142 HGNC
- Ensembl
- ENSG00000125741 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 18 |
| Likely pathogenic | 0 | 32 |
| Benign | 0 | 110 |
| Likely benign | 0 | 342 |
| Conflicting classifications of pathogenicity | 0 | 106 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 580 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
134 |
 |
900 |
 |
10 |
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 | MGA3 |
| MIM | 606580 OMIM |
| HGNC | HGNC:8142 HGNC |
| Ensembl | ENSG00000125741 Ensembl |
| AllianceGenome | HGNC:8142 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000323060.4 | hg38 | chr19 | 45,527,767 | 45,584,802 | 57,036 |
| ENST00000263275.5 | hg38 | chr19 | 45,546,281 | 45,584,802 | 38,522 |
| ENST00000544371.1 | hg38 | chr19 | 45,552,884 | 45,602,212 | 49,329 |
| ENST00000323060.4 | hg19 | chr19 | 46,031,025 | 46,088,060 | 57,036 |
| ENST00000263275.5 | hg19 | chr19 | 46,049,539 | 46,088,060 | 38,522 |
| ENST00000544371.1 | hg19 | chr19 | 46,056,142 | 46,105,470 | 49,329 |
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