PDE3B phosphodiesterase 3B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 18 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 110 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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140 |
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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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Target data | : |
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 | |||||
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | HcGIP1 |
SYNONYM | cGIPDE1 |
MIM | 602047 OMIM |
HGNC | HGNC:8779 HGNC |
Ensembl | ENSG00000152270 Ensembl |
AllianceGenome | HGNC:8779 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000455098.2 | hg38 | chr11 | 14,643,831 | 14,869,894 | 226,064 |
ENST00000282096.9 | hg38 | chr11 | 14,643,804 | 14,872,044 | 228,241 |
ENST00000282096.9 | hg19 | chr11 | 14,665,350 | 14,893,590 | 228,241 |
ENST00000455098.2 | hg19 | chr11 | 14,665,377 | 14,891,440 | 226,064 |
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