PLEKHM1 pleckstrin homology and RUN domain containing M1

Information
Symbol
PLEKHM1
Type
protein-coding
Description
pleckstrin homology and RUN domain containing M1
Entrez Gene ID
9842
Genome
hg19
Position
chr17:43,513,266-43,568,087
Genome
hg38
Position
chr17:45,435,900-45,490,721
MIM
611466 OMIM
HGNC
HGNC:29017 HGNC
Ensembl
ENSG00000225190 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 0 38
Likely benign 0 12
Uncertain significance 0 128
Ranking
ClinVar
0
0
6
170
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 :
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 AP162
SYNONYM B2
SYNONYM OPTA3
SYNONYM OPTB6
MIM 611466 OMIM
HGNC HGNC:29017 HGNC
Ensembl ENSG00000225190 Ensembl
AllianceGenome HGNC:29017
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000700125.1 hg38 chr17 45,452,925 45,490,758 37,834
ENST00000700128.1 hg38 chr17 45,465,240 45,490,754 25,515
ENST00000430334.8 hg38 chr17 45,435,900 45,490,721 54,822
ENST00000446609.7 hg38 chr17 45,436,902 45,487,858 50,957
ENST00000430334.8 hg19 chr17 43,513,266 43,568,087 54,822
ENST00000446609.7 hg19 chr17 43,514,268 43,565,224 50,957
ENST00000700125.1 hg19 chr17 43,530,291 43,568,124 37,834
ENST00000700128.1 hg19 chr17 43,542,606 43,568,120 25,515
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