PDE4C phosphodiesterase 4C
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 70 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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80 |
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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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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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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | DPDE1 |
SYNONYM | PDE21 |
MIM | 600128 OMIM |
HGNC | HGNC:8782 HGNC |
Ensembl | ENSG00000105650 Ensembl |
AllianceGenome | HGNC:8782 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000594465.7 | hg38 | chr19 | 18,210,560 | 18,233,671 | 23,112 |
ENST00000539010.5 | hg38 | chr19 | 18,210,831 | 18,221,161 | 10,331 |
ENST00000262805.17 | hg38 | chr19 | 18,207,965 | 18,226,438 | 18,474 |
ENST00000594617.7 | hg38 | chr19 | 18,208,652 | 18,248,200 | 39,549 |
ENST00000447275.7 | hg38 | chr19 | 18,210,543 | 18,224,493 | 13,951 |
ENST00000262805.17 | hg19 | chr19 | 18,318,775 | 18,337,248 | 18,474 |
ENST00000594617.7 | hg19 | chr19 | 18,319,462 | 18,359,010 | 39,549 |
ENST00000447275.7 | hg19 | chr19 | 18,321,353 | 18,335,303 | 13,951 |
ENST00000594465.7 | hg19 | chr19 | 18,321,370 | 18,344,481 | 23,112 |
ENST00000539010.5 | hg19 | chr19 | 18,321,641 | 18,331,971 | 10,331 |
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