PDLIM2 PDZ and LIM domain 2

Information
Symbol
PDLIM2
Type
protein-coding
Description
PDZ and LIM domain 2
Entrez Gene ID
64236
Genome
hg19
Position
chr8:22,436,254-22,451,811
Genome
hg38
Position
chr8:22,578,741-22,594,298
MIM
609722 OMIM
HGNC
HGNC:13992 HGNC
Ensembl
ENSG00000120913 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 118
Ranking
ClinVar
0
0
0
126
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 :
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 MYSTIQUE
SYNONYM SLIM
MIM 609722 OMIM
HGNC HGNC:13992 HGNC
Ensembl ENSG00000120913 Ensembl
AllianceGenome HGNC:13992
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409141.5 hg38 chr8 22,580,471 22,594,298 13,828
ENST00000308354.11 hg38 chr8 22,578,741 22,594,298 15,558
ENST00000265810.8 hg38 chr8 22,580,490 22,598,025 17,536
ENST00000464275.5 hg38 chr8 22,588,202 22,594,290 6,089
ENST00000443561.3 hg38 chr8 22,589,283 22,594,195 4,913
ENST00000409417.6 hg38 chr8 22,580,475 22,594,298 13,824
ENST00000339162.11 hg38 chr8 22,578,741 22,594,288 15,548
ENST00000397760.8 hg38 chr8 22,579,130 22,594,298 15,169
ENST00000397761.6 hg38 chr8 22,579,150 22,594,265 15,116
ENST00000614502.4 hg38 chr8 22,589,282 22,593,974 4,693
ENST00000339162.11 hg19 chr8 22,436,254 22,451,801 15,548
ENST00000308354.11 hg19 chr8 22,436,254 22,451,811 15,558
ENST00000409141.5 hg19 chr8 22,437,984 22,451,811 13,828
ENST00000265810.8 hg19 chr8 22,438,003 22,455,538 17,536
ENST00000397760.8 hg19 chr8 22,436,643 22,451,811 15,169
ENST00000397761.6 hg19 chr8 22,436,663 22,451,778 15,116
ENST00000409417.6 hg19 chr8 22,437,988 22,451,811 13,824
ENST00000464275.5 hg19 chr8 22,445,715 22,451,803 6,089
ENST00000614502.4 hg19 chr8 22,446,795 22,451,487 4,693
ENST00000443561.3 hg19 chr8 22,446,796 22,451,708 4,913
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