UBL4A ubiquitin like 4A
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 6 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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10 |
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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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| 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 | DX254E |
| SYNONYM | DXS254E |
| SYNONYM | G6PD |
| SYNONYM | GDX |
| SYNONYM | GET5 |
| SYNONYM | MDY2 |
| SYNONYM | TMA24 |
| SYNONYM | UBL4 |
| MIM | 312070 OMIM |
| HGNC | HGNC:12505 HGNC |
| Ensembl | ENSG00000102178 Ensembl |
| AllianceGenome | HGNC:12505 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000369660.9 | hg38 | chrX | 154,483,717 | 154,486,615 | 2,899 |
| ENST00000630530.1 | hg38 | chrX | 154,485,926 | 154,486,584 | 659 |
| ENST00000369653.8 | hg38 | chrX | 154,485,193 | 154,486,615 | 1,423 |
| ENST00000369660.9 | hg19 | chrX | 153,712,056 | 153,714,954 | 2,899 |
| ENST00000369653.8 | hg19 | chrX | 153,713,532 | 153,714,954 | 1,423 |
| ENST00000630530.1 | hg19 | chrX | 153,714,265 | 153,714,923 | 659 |
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