GNPDA2 glucosamine-6-phosphate deaminase 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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18 |
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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 | GNP2 |
| SYNONYM | SB52 |
| MIM | 613222 OMIM |
| HGNC | HGNC:21526 HGNC |
| Ensembl | ENSG00000163281 Ensembl |
| AllianceGenome | HGNC:21526 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000295448.8 | hg38 | chr4 | 44,701,795 | 44,726,556 | 24,762 |
| ENST00000509756.1 | hg38 | chr4 | 44,703,246 | 44,726,545 | 23,300 |
| ENST00000507534.5 | hg38 | chr4 | 44,702,788 | 44,726,523 | 23,736 |
| ENST00000507917.5 | hg38 | chr4 | 44,701,868 | 44,726,570 | 24,703 |
| ENST00000295448.8 | hg19 | chr4 | 44,703,812 | 44,728,573 | 24,762 |
| ENST00000507917.5 | hg19 | chr4 | 44,703,885 | 44,728,587 | 24,703 |
| ENST00000507534.5 | hg19 | chr4 | 44,704,805 | 44,728,540 | 23,736 |
| ENST00000509756.1 | hg19 | chr4 | 44,705,263 | 44,728,562 | 23,300 |
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