PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2

Information
Symbol
PLEKHH2
Type
protein-coding
Description
pleckstrin homology, MyTH4 and FERM domain containing H2
Entrez Gene ID
130271
Genome
hg19
Position
chr2:43,864,399-43,995,126
Genome
hg38
Position
chr2:43,637,260-43,767,987
MIM
612723 OMIM
HGNC
HGNC:30506 HGNC
Ensembl
ENSG00000152527 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 12
Uncertain significance 0 190
Ranking
ClinVar
0
0
0
204
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 PLEKHH1L
MIM 612723 OMIM
HGNC HGNC:30506 HGNC
Ensembl ENSG00000152527 Ensembl
AllianceGenome HGNC:30506
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000282406.9 hg38 chr2 43,637,260 43,767,987 130,728
ENST00000282406.9 hg19 chr2 43,864,399 43,995,126 130,728
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