ASPHD1 aspartate beta-hydroxylase domain containing 1
Information
- Symbol
- ASPHD1
- Type
- protein-coding
- Description
- aspartate beta-hydroxylase domain containing 1
- Entrez Gene ID
- 253982
- Genome
- hg19
- Position
- chr16:29,911,809-29,917,377
- Genome
- hg38
- Position
- chr16:29,900,488-29,906,056
- HGNC
- HGNC:27380 HGNC
- Ensembl
- ENSG00000174939 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 9 | 0 |
| Uncertain significance | 0 | 40 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
40 |
 |
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
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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| 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 | |||||||||||||||
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000308748.10 | hg38 | chr16 | 29,900,488 | 29,906,056 | 5,569 |
| ENST00000651383.1 | hg38 | chr16 | 29,900,882 | 29,906,020 | 5,139 |
| ENST00000483405.5 | hg38 | chr16 | 29,900,379 | 29,906,056 | 5,678 |
| ENST00000483405.5 | hg19 | chr16 | 29,911,700 | 29,917,377 | 5,678 |
| ENST00000308748.10 | hg19 | chr16 | 29,911,809 | 29,917,377 | 5,569 |
| ENST00000651383.1 | hg19 | chr16 | 29,912,203 | 29,917,341 | 5,139 |
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