PDE6G phosphodiesterase 6G

Information
Symbol
PDE6G
Type
protein-coding
Description
phosphodiesterase 6G
Entrez Gene ID
5148
Genome
hg19
Position
chr17:79,617,489-79,623,572
Genome
hg38
Position
chr17:81,650,459-81,656,542
MIM
180073 OMIM
HGNC
HGNC:8789 HGNC
Ensembl
ENSG00000185527 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 20
Likely benign 0 68
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 112
Ranking
ClinVar
0
0
20
182
2
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 :
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 PDEG
SYNONYM RP57
MIM 180073 OMIM
HGNC HGNC:8789 HGNC
Ensembl ENSG00000185527 Ensembl
AllianceGenome HGNC:8789
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000571004.1 hg38 chr17 81,650,963 81,653,694 2,732
ENST00000331056.10 hg38 chr17 81,650,459 81,656,542 6,084
ENST00000571224.5 hg38 chr17 81,650,925 81,663,112 12,188
ENST00000331056.10 hg19 chr17 79,617,489 79,623,572 6,084
ENST00000571224.5 hg19 chr17 79,617,955 79,630,142 12,188
ENST00000571004.1 hg19 chr17 79,617,993 79,620,724 2,732
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