PGGHG protein-glucosylgalactosylhydroxylysine glucosidase
Information
- Symbol
- PGGHG
- Type
- protein-coding
- Description
- protein-glucosylgalactosylhydroxylysine glucosidase
- Entrez Gene ID
- 80162
- Genome
- hg19
- Position
- chr11:289,126-296,107
- Genome
- hg38
- Position
- chr11:289,126-296,107
- MIM
- 617032 OMIM
- HGNC
- HGNC:26210 HGNC
- Ensembl
- ENSG00000142102 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
16 |
 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| 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 |
|---|---|
| SYNONYM | ATHL1 |
| MIM | 617032 OMIM |
| HGNC | HGNC:26210 HGNC |
| Ensembl | ENSG00000142102 Ensembl |
| AllianceGenome | HGNC:26210 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000409548.7 | hg38 | chr11 | 289,126 | 296,107 | 6,982 |
| ENST00000409479.5 | hg38 | chr11 | 289,559 | 295,258 | 5,700 |
| ENST00000409655.5 | hg38 | chr11 | 289,172 | 295,676 | 6,505 |
| ENST00000409548.7 | hg19 | chr11 | 289,126 | 296,107 | 6,982 |
| ENST00000409655.5 | hg19 | chr11 | 289,172 | 295,676 | 6,505 |
| ENST00000409479.5 | hg19 | chr11 | 289,559 | 295,258 | 5,700 |
Genome browser