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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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | GATD10 |
SYNONYM | GH |
MIM | 601509 OMIM |
HGNC | HGNC:4248 HGNC |
Ensembl | ENSG00000137563 Ensembl |
AllianceGenome | HGNC:4248 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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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