PDE1B phosphodiesterase 1B
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
38 |
 |
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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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 | HEL-S-79p |
| SYNONYM | PDE1B1 |
| SYNONYM | PDES1B |
| MIM | 171891 OMIM |
| HGNC | HGNC:8775 HGNC |
| Ensembl | ENSG00000123360 Ensembl |
| AllianceGenome | HGNC:8775 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000243052.8 | hg38 | chr12 | 54,549,601 | 54,579,239 | 29,639 |
| ENST00000550620.1 | hg38 | chr12 | 54,561,457 | 54,578,313 | 16,857 |
| ENST00000538346.5 | hg38 | chr12 | 54,550,080 | 54,577,929 | 27,850 |
| ENST00000243052.8 | hg19 | chr12 | 54,943,385 | 54,973,023 | 29,639 |
| ENST00000538346.5 | hg19 | chr12 | 54,943,864 | 54,971,713 | 27,850 |
| ENST00000550620.1 | hg19 | chr12 | 54,955,241 | 54,972,097 | 16,857 |
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