GLUD2 glutamate dehydrogenase 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 2 |
Benign | 0 | 4 |
Likely benign | 0 | 12 |
Conflicting classifications of pathogenicity | 0 | 4 |
not provided | 6 | 0 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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70 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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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 | GDH2 |
SYNONYM | GLUDP1 |
MIM | 300144 OMIM |
HGNC | HGNC:4336 HGNC |
Ensembl | ENSG00000182890 Ensembl |
AllianceGenome | HGNC:4336 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000328078.3 | hg38 | chrX | 121,047,610 | 121,050,094 | 2,485 |
ENST00000328078.3 | hg19 | chrX | 120,181,464 | 120,183,948 | 2,485 |
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