PLEKHG2 pleckstrin homology and RhoGEF domain containing G2

Information
Symbol
PLEKHG2
Type
protein-coding
Description
pleckstrin homology and RhoGEF domain containing G2
Entrez Gene ID
64857
Genome
hg19
Position
chr19:39,903,309-39,919,055
Genome
hg38
Position
chr19:39,412,669-39,428,415
MIM
611893 OMIM
HGNC
HGNC:29515 HGNC
Ensembl
ENSG00000090924 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 4
Benign 0 90
Likely benign 0 324
Conflicting classifications of pathogenicity 0 12
Uncertain significance 0 478
Ranking
ClinVar
0
0
140
734
8
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 :
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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 ARHGEF42
SYNONYM CLG
SYNONYM CTB-60E11.4
SYNONYM LDAMD
MIM 611893 OMIM
HGNC HGNC:29515 HGNC
Ensembl ENSG00000090924 Ensembl
AllianceGenome HGNC:29515
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000425673.6 hg38 chr19 39,412,669 39,428,415 15,747
ENST00000458508.6 hg38 chr19 39,413,309 39,425,437 12,129
ENST00000409797.6 hg38 chr19 39,413,665 39,425,516 11,852
ENST00000425673.6 hg19 chr19 39,903,309 39,919,055 15,747
ENST00000458508.6 hg19 chr19 39,903,949 39,916,077 12,129
ENST00000409797.6 hg19 chr19 39,904,305 39,916,156 11,852
KeyValue
strand+
UniProtTSG
start39,903,749
Gene SymbolPLEKHG2
Entrez GeneId64,857
Chr Band19q13.2
end39,919,054
chrchr19
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