PLEK pleckstrin

Information
Symbol
PLEK
Type
protein-coding
Description
pleckstrin
Entrez Gene ID
5341
Genome
hg19
Position
chr2:68,592,414-68,624,585
Genome
hg38
Position
chr2:68,365,282-68,397,453
MIM
173570 OMIM
HGNC
HGNC:9070 HGNC
Ensembl
ENSG00000115956 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
32
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 :
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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 P47
SYNONYM PLEK1
MIM 173570 OMIM
HGNC HGNC:9070 HGNC
Ensembl ENSG00000115956 Ensembl
AllianceGenome HGNC:9070
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000234313.8 hg38 chr2 68,365,282 68,397,453 32,172
ENST00000234313.8 hg19 chr2 68,592,414 68,624,585 32,172
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