PDE5A phosphodiesterase 5A
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 18 |
Likely benign | 0 | 16 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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90 |
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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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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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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 | CGB-PDE |
SYNONYM | CN5A |
SYNONYM | PDE5 |
MIM | 603310 OMIM |
HGNC | HGNC:8784 HGNC |
Ensembl | ENSG00000138735 Ensembl |
AllianceGenome | HGNC:8784 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000264805.9 | hg38 | chr4 | 119,498,541 | 119,627,633 | 129,093 |
ENST00000394439.5 | hg38 | chr4 | 119,494,397 | 119,628,084 | 133,688 |
ENST00000354960.8 | hg38 | chr4 | 119,494,403 | 119,628,804 | 134,402 |
ENST00000394439.5 | hg19 | chr4 | 120,415,552 | 120,549,239 | 133,688 |
ENST00000354960.8 | hg19 | chr4 | 120,415,558 | 120,549,959 | 134,402 |
ENST00000264805.9 | hg19 | chr4 | 120,419,696 | 120,548,788 | 129,093 |
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