PDE6H phosphodiesterase 6H

Information
Symbol
PDE6H
Type
protein-coding
Description
phosphodiesterase 6H
Entrez Gene ID
5149
Genome
hg19
Position
chr12:15,125,976-15,134,799
Genome
hg38
Position
chr12:14,973,042-14,981,865
MIM
601190 OMIM
HGNC
HGNC:8790 HGNC
Ensembl
ENSG00000139053 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 44
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 72
Ranking
ClinVar
0
0
10
116
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
Search Word
Target data :
MGeND data only
Category :
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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
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 ACHM6
SYNONYM RCD3
MIM 601190 OMIM
HGNC HGNC:8790 HGNC
Ensembl ENSG00000139053 Ensembl
AllianceGenome HGNC:8790
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000266395.3 hg38 chr12 14,973,042 14,981,865 8,824
ENST00000266395.3 hg19 chr12 15,125,976 15,134,799 8,824
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