PDC phosducin

Information
Symbol
PDC
Type
protein-coding
Description
phosducin
Entrez Gene ID
5132
Genome
hg19
Position
chr1:186,412,698-186,430,246
Genome
hg38
Position
chr1:186,443,566-186,461,114
MIM
171490 OMIM
HGNC
HGNC:8759 HGNC
Ensembl
ENSG00000116703 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
16
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 MEKA
SYNONYM PHD
SYNONYM PhLOP
SYNONYM PhLP
MIM 171490 OMIM
HGNC HGNC:8759 HGNC
Ensembl ENSG00000116703 Ensembl
AllianceGenome HGNC:8759
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000497198.1 hg38 chr1 186,443,582 186,448,724 5,143
ENST00000391997.3 hg38 chr1 186,443,566 186,461,114 17,549
ENST00000391997.3 hg19 chr1 186,412,698 186,430,246 17,549
ENST00000497198.1 hg19 chr1 186,412,714 186,417,856 5,143
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