PDE3A phosphodiesterase 3A

Information
Symbol
PDE3A
Type
protein-coding
Description
phosphodiesterase 3A
Entrez Gene ID
5139
Genome
hg19
Position
chr12:20,521,471-20,841,517
Genome
hg38
Position
chr12:20,368,537-20,688,583
MIM
123805 OMIM
HGNC
HGNC:8778 HGNC
Ensembl
ENSG00000172572 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 14
Likely pathogenic 0 2
Benign 0 134
Likely benign 0 92
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 192
Ranking
ClinVar
0
0
46
362
14
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Category :
Search word :
Filtering :
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
TypeID
SYNONYM CGI-PDE
SYNONYM CGI-PDE A
SYNONYM CGI-PDE-A
SYNONYM HTNB
MIM 123805 OMIM
HGNC HGNC:8778 HGNC
Ensembl ENSG00000172572 Ensembl
AllianceGenome HGNC:8778
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000359062.4 hg38 chr12 20,368,537 20,688,583 320,047
ENST00000359062.4 hg19 chr12 20,521,471 20,841,517 320,047
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