PLEKHH3 pleckstrin homology, MyTH4 and FERM domain containing H3

Information
Symbol
PLEKHH3
Type
protein-coding
Description
pleckstrin homology, MyTH4 and FERM domain containing H3
Entrez Gene ID
79990
Genome
hg19
Position
chr17:40,819,932-40,829,012
Genome
hg38
Position
chr17:42,667,914-42,676,994
HGNC
HGNC:26105 HGNC
Ensembl
ENSG00000068137 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 8
Uncertain significance 0 130
Ranking
ClinVar
0
0
0
136
4
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
HGNC HGNC:26105 HGNC
Ensembl ENSG00000068137 Ensembl
AllianceGenome HGNC:26105
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000293349.10 hg38 chr17 42,667,944 42,676,994 9,051
ENST00000591022.6 hg38 chr17 42,667,914 42,676,994 9,081
ENST00000591022.6 hg19 chr17 40,819,932 40,829,012 9,081
ENST00000293349.10 hg19 chr17 40,819,962 40,829,012 9,051
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