GAPDH glyceraldehyde-3-phosphate dehydrogenase
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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12 |
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||||||||||||||
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| 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 | G3PD |
| SYNONYM | GAPD |
| SYNONYM | HEL-S-162eP |
| MIM | 138400 OMIM |
| HGNC | HGNC:4141 HGNC |
| Ensembl | ENSG00000111640 Ensembl |
| AllianceGenome | HGNC:4141 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000396861.5 | hg38 | chr12 | 6,534,534 | 6,538,359 | 3,826 |
| ENST00000396859.5 | hg38 | chr12 | 6,534,754 | 6,538,339 | 3,586 |
| ENST00000396856.5 | hg38 | chr12 | 6,534,532 | 6,538,340 | 3,809 |
| ENST00000396858.5 | hg38 | chr12 | 6,535,302 | 6,538,315 | 3,014 |
| ENST00000619601.1 | hg38 | chr12 | 6,536,605 | 6,538,374 | 1,770 |
| ENST00000229239.10 | hg38 | chr12 | 6,534,517 | 6,538,371 | 3,855 |
| ENST00000229239.10 | hg19 | chr12 | 6,643,683 | 6,647,537 | 3,855 |
| ENST00000396856.5 | hg19 | chr12 | 6,643,698 | 6,647,506 | 3,809 |
| ENST00000396861.5 | hg19 | chr12 | 6,643,700 | 6,647,525 | 3,826 |
| ENST00000396859.5 | hg19 | chr12 | 6,643,920 | 6,647,505 | 3,586 |
| ENST00000396858.5 | hg19 | chr12 | 6,644,468 | 6,647,481 | 3,014 |
| ENST00000619601.1 | hg19 | chr12 | 6,645,771 | 6,647,540 | 1,770 |
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