THPO thrombopoietin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 14 |
| Likely pathogenic | 1 | 12 |
| Benign | 12 | 34 |
| Likely benign | 0 | 74 |
| Conflicting classifications of pathogenicity | 0 | 22 |
| Uncertain significance | 0 | 154 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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40 |
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234 |
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6 |
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
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| Target data | : |
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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 | ||||||||||||||
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 | CAMT2 |
| SYNONYM | MGDF |
| SYNONYM | MKCSF |
| SYNONYM | ML |
| SYNONYM | MPLLG |
| SYNONYM | THC9 |
| SYNONYM | THCYT1 |
| SYNONYM | TPO |
| MIM | 600044 OMIM |
| HGNC | HGNC:11795 HGNC |
| Ensembl | ENSG00000090534 Ensembl |
| AllianceGenome | HGNC:11795 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000421442.2 | hg38 | chr3 | 184,372,327 | 184,376,259 | 3,933 |
| ENST00000647395.1 | hg38 | chr3 | 184,371,935 | 184,378,207 | 6,273 |
| ENST00000645603.2 | hg38 | chr3 | 184,372,485 | 184,381,968 | 9,484 |
| ENST00000445696.6 | hg38 | chr3 | 184,372,269 | 184,378,140 | 5,872 |
| ENST00000649095.1 | hg38 | chr3 | 184,371,935 | 184,379,688 | 7,754 |
| ENST00000650229.1 | hg38 | chr3 | 184,372,598 | 184,376,259 | 3,662 |
| ENST00000647395.1 | hg19 | chr3 | 184,089,723 | 184,095,995 | 6,273 |
| ENST00000649095.1 | hg19 | chr3 | 184,089,723 | 184,097,476 | 7,754 |
| ENST00000445696.6 | hg19 | chr3 | 184,090,057 | 184,095,928 | 5,872 |
| ENST00000421442.2 | hg19 | chr3 | 184,090,115 | 184,094,047 | 3,933 |
| ENST00000645603.2 | hg19 | chr3 | 184,090,273 | 184,099,756 | 9,484 |
| ENST00000650229.1 | hg19 | chr3 | 184,090,386 | 184,094,047 | 3,662 |
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