PLEKHA4 pleckstrin homology domain containing A4

Information
Symbol
PLEKHA4
Type
protein-coding
Description
pleckstrin homology domain containing A4
Entrez Gene ID
57664
Genome
hg19
Position
chr19:49,340,354-49,371,874
Genome
hg38
Position
chr19:48,837,097-48,868,617
MIM
607769 OMIM
HGNC
HGNC:14339 HGNC
Ensembl
ENSG00000105559 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 122
Ranking
ClinVar
0
0
0
128
2
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 PEPP1
MIM 607769 OMIM
HGNC HGNC:14339 HGNC
Ensembl ENSG00000105559 Ensembl
AllianceGenome HGNC:14339
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263265.11 hg38 chr19 48,837,097 48,868,617 31,521
ENST00000594100.2 hg38 chr19 48,837,092 48,868,569 31,478
ENST00000355496.9 hg38 chr19 48,837,097 48,868,454 31,358
ENST00000594100.2 hg19 chr19 49,340,349 49,371,826 31,478
ENST00000355496.9 hg19 chr19 49,340,354 49,371,711 31,358
ENST00000263265.11 hg19 chr19 49,340,354 49,371,874 31,521
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