ORMDL2 ORMDL sphingolipid biosynthesis regulator 2
Information
- Symbol
- ORMDL2
- Type
- protein-coding
- Description
- ORMDL sphingolipid biosynthesis regulator 2
- Entrez Gene ID
- 29095
- Genome
- hg19
- Position
- chr12:56,211,825-56,215,663
- Genome
- hg38
- Position
- chr12:55,818,041-55,821,879
- MIM
- 610074 OMIM
- HGNC
- HGNC:16037 HGNC
- Ensembl
- ENSG00000123353 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
20 |
 |
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
[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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| 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 | HSPC160 |
| SYNONYM | MST095 |
| SYNONYM | MSTP095 |
| SYNONYM | adoplin-2 |
| MIM | 610074 OMIM |
| HGNC | HGNC:16037 HGNC |
| Ensembl | ENSG00000123353 Ensembl |
| AllianceGenome | HGNC:16037 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000243045.10 | hg38 | chr12 | 55,818,041 | 55,821,879 | 3,839 |
| ENST00000552672.5 | hg38 | chr12 | 55,818,041 | 55,820,712 | 2,672 |
| ENST00000548974.1 | hg38 | chr12 | 55,818,330 | 55,820,513 | 2,184 |
| ENST00000550836.1 | hg38 | chr12 | 55,818,044 | 55,820,476 | 2,433 |
| ENST00000552672.5 | hg19 | chr12 | 56,211,825 | 56,214,496 | 2,672 |
| ENST00000243045.10 | hg19 | chr12 | 56,211,825 | 56,215,663 | 3,839 |
| ENST00000550836.1 | hg19 | chr12 | 56,211,828 | 56,214,260 | 2,433 |
| ENST00000548974.1 | hg19 | chr12 | 56,212,114 | 56,214,297 | 2,184 |
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