GOT2 glutamic-oxaloacetic transaminase 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 42 |
| Likely benign | 0 | 64 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 98 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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24 |
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184 |
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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
Search Word
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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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MGeND data only
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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 | DEE82 |
| SYNONYM | KAT4 |
| SYNONYM | KATIV |
| SYNONYM | KYAT4 |
| SYNONYM | mitAAT |
| MIM | 138150 OMIM |
| HGNC | HGNC:4433 HGNC |
| Ensembl | ENSG00000125166 Ensembl |
| AllianceGenome | HGNC:4433 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000245206.10 | hg38 | chr16 | 58,707,131 | 58,734,316 | 27,186 |
| ENST00000434819.2 | hg38 | chr16 | 58,707,818 | 58,734,326 | 26,509 |
| ENST00000245206.10 | hg19 | chr16 | 58,741,035 | 58,768,220 | 27,186 |
| ENST00000434819.2 | hg19 | chr16 | 58,741,722 | 58,768,230 | 26,509 |
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