ORMDL1 ORMDL sphingolipid biosynthesis regulator 1
Information
- Symbol
- ORMDL1
- Type
- protein-coding
- Description
- ORMDL sphingolipid biosynthesis regulator 1
- Entrez Gene ID
- 94101
- Genome
- hg19
- Position
- chr2:190,635,050-190,648,108
- Genome
- hg38
- Position
- chr2:189,770,324-189,783,382
- MIM
- 610073 OMIM
- HGNC
- HGNC:16036 HGNC
- Ensembl
- ENSG00000128699 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
24 |
 |
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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| 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 |
|---|---|
| MIM | 610073 OMIM |
| HGNC | HGNC:16036 HGNC |
| Ensembl | ENSG00000128699 Ensembl |
| AllianceGenome | HGNC:16036 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000392349.9 | hg38 | chr2 | 189,770,267 | 189,784,339 | 14,073 |
| ENST00000392350.7 | hg38 | chr2 | 189,770,323 | 189,784,364 | 14,042 |
| ENST00000409519.5 | hg38 | chr2 | 189,774,725 | 189,784,318 | 9,594 |
| ENST00000325795.7 | hg38 | chr2 | 189,770,324 | 189,783,382 | 13,059 |
| ENST00000392349.9 | hg19 | chr2 | 190,634,993 | 190,649,065 | 14,073 |
| ENST00000392350.7 | hg19 | chr2 | 190,635,049 | 190,649,090 | 14,042 |
| ENST00000325795.7 | hg19 | chr2 | 190,635,050 | 190,648,108 | 13,059 |
| ENST00000409519.5 | hg19 | chr2 | 190,639,451 | 190,649,044 | 9,594 |
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