GGH gamma-glutamyl hydrolase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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44 |
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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
[No Data.]
Locus Zoom
Variants
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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 | |||||||||||
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| 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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| 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 | GATD10 |
| SYNONYM | GH |
| MIM | 601509 OMIM |
| HGNC | HGNC:4248 HGNC |
| Ensembl | ENSG00000137563 Ensembl |
| AllianceGenome | HGNC:4248 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000677482.1 | hg38 | chr8 | 63,014,881 | 63,038,867 | 23,987 |
| ENST00000518113.2 | hg38 | chr8 | 63,023,509 | 63,038,801 | 15,293 |
| ENST00000260118.7 | hg38 | chr8 | 63,015,079 | 63,038,806 | 23,728 |
| ENST00000677482.1 | hg19 | chr8 | 63,927,440 | 63,951,426 | 23,987 |
| ENST00000260118.7 | hg19 | chr8 | 63,927,638 | 63,951,365 | 23,728 |
| ENST00000518113.2 | hg19 | chr8 | 63,936,068 | 63,951,360 | 15,293 |
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