GLB1L galactosidase beta 1 like
Information
- Symbol
- GLB1L
- Type
- protein-coding
- Description
- galactosidase beta 1 like
- Entrez Gene ID
- 79411
- Genome
- hg19
- Position
- chr2:220,101,320-220,110,166
- Genome
- hg38
- Position
- chr2:219,236,598-219,245,444
- HGNC
- HGNC:28129 HGNC
- Ensembl
- ENSG00000163521 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
68 |
 |
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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| 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 |
|---|---|---|---|---|---|
| ENST00000392089.6 | hg38 | chr2 | 219,236,771 | 219,245,478 | 8,708 |
| ENST00000295759.12 | hg38 | chr2 | 219,236,598 | 219,245,444 | 8,847 |
| ENST00000409640.5 | hg38 | chr2 | 219,236,766 | 219,243,614 | 6,849 |
| ENST00000295759.12 | hg19 | chr2 | 220,101,320 | 220,110,166 | 8,847 |
| ENST00000409640.5 | hg19 | chr2 | 220,101,488 | 220,108,336 | 6,849 |
| ENST00000392089.6 | hg19 | chr2 | 220,101,493 | 220,110,200 | 8,708 |
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