OXA1L OXA1L mitochondrial inner membrane protein
Information
- Symbol
- OXA1L
- Type
- protein-coding
- Description
- OXA1L mitochondrial inner membrane protein
- Entrez Gene ID
- 5018
- Genome
- hg19
- Position
- chr14:23,235,897-23,242,251
- Genome
- hg38
- Position
- chr14:22,766,688-22,773,042
- MIM
- 601066 OMIM
- HGNC
- HGNC:8526 HGNC
- Ensembl
- ENSG00000155463 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 6 |
| Likely benign | 0 | 20 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
98 |
 |
8 |
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 | OXA1 |
| SYNONYM | OXA1L1 |
| MIM | 601066 OMIM |
| HGNC | HGNC:8526 HGNC |
| Ensembl | ENSG00000155463 Ensembl |
| AllianceGenome | HGNC:8526 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000285848.9 | hg38 | chr14 | 22,766,522 | 22,771,789 | 5,268 |
| ENST00000412791.5 | hg38 | chr14 | 22,766,702 | 22,771,771 | 5,070 |
| ENST00000358043.5 | hg38 | chr14 | 22,766,719 | 22,771,730 | 5,012 |
| ENST00000612549.6 | hg38 | chr14 | 22,766,688 | 22,773,042 | 6,355 |
| ENST00000285848.9 | hg19 | chr14 | 23,235,731 | 23,240,998 | 5,268 |
| ENST00000612549.6 | hg19 | chr14 | 23,235,897 | 23,242,251 | 6,355 |
| ENST00000412791.5 | hg19 | chr14 | 23,235,911 | 23,240,980 | 5,070 |
| ENST00000358043.5 | hg19 | chr14 | 23,235,928 | 23,240,939 | 5,012 |
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