ITPA inosine triphosphatase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 36 |
| Likely pathogenic | 0 | 30 |
| Benign | 0 | 48 |
| Likely benign | 0 | 236 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| drug response | 0 | 4 |
| Uncertain significance | 0 | 218 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
4 |
 |
62 |
 |
486 |
 |
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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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 | C20orf37 |
| SYNONYM | DEE35 |
| SYNONYM | HLC14-06-P |
| SYNONYM | ITPase |
| SYNONYM | My049 |
| SYNONYM | NTPase |
| SYNONYM | dJ794I6.3 |
| MIM | 147520 OMIM |
| HGNC | HGNC:6176 HGNC |
| Ensembl | ENSG00000125877 Ensembl |
| AllianceGenome | HGNC:6176 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000380113.8 | hg38 | chr20 | 3,209,498 | 3,223,860 | 14,363 |
| ENST00000399838.3 | hg38 | chr20 | 3,209,525 | 3,223,870 | 14,346 |
| ENST00000455664.6 | hg38 | chr20 | 3,209,513 | 3,223,618 | 14,106 |
| ENST00000380113.8 | hg19 | chr20 | 3,190,144 | 3,204,506 | 14,363 |
| ENST00000455664.6 | hg19 | chr20 | 3,190,159 | 3,204,264 | 14,106 |
| ENST00000399838.3 | hg19 | chr20 | 3,190,171 | 3,204,516 | 14,346 |
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