PKP3 plakophilin 3

Information
Symbol
PKP3
Type
protein-coding
Description
plakophilin 3
Entrez Gene ID
11187
Genome
hg19
Position
chr11:394,209-404,908
Genome
hg38
Position
chr11:394,209-404,908
MIM
605561 OMIM
HGNC
HGNC:9025 HGNC
Ensembl
ENSG00000184363 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 18
Uncertain significance 0 176
Ranking
ClinVar
0
0
2
196
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
MIM 605561 OMIM
HGNC HGNC:9025 HGNC
Ensembl ENSG00000184363 Ensembl
AllianceGenome HGNC:9025
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000534401.6 hg38 chr11 392,614 404,908 12,295
ENST00000331563.7 hg38 chr11 394,209 404,908 10,700
ENST00000533249.6 hg38 chr11 393,449 404,908 11,460
ENST00000534401.6 hg19 chr11 392,614 404,908 12,295
ENST00000533249.6 hg19 chr11 393,449 404,908 11,460
ENST00000331563.7 hg19 chr11 394,209 404,908 10,700
Genome browser