PLEKHB1 pleckstrin homology domain containing B1

Information
Symbol
PLEKHB1
Type
protein-coding
Description
pleckstrin homology domain containing B1
Entrez Gene ID
58473
Genome
hg19
Position
chr11:73,357,626-73,373,864
Genome
hg38
Position
chr11:73,646,581-73,662,819
MIM
607651 OMIM
HGNC
HGNC:19079 HGNC
Ensembl
ENSG00000021300 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
38
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 :
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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 KPL1
SYNONYM PHR1
SYNONYM PHRET1
MIM 607651 OMIM
HGNC HGNC:19079 HGNC
Ensembl ENSG00000021300 Ensembl
AllianceGenome HGNC:19079
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000535129.5 hg38 chr11 73,648,690 73,661,720 13,031
ENST00000543085.5 hg38 chr11 73,647,626 73,661,665 14,040
ENST00000227214.10 hg38 chr11 73,647,549 73,662,819 15,271
ENST00000354190.10 hg38 chr11 73,646,581 73,662,819 16,239
ENST00000398494.8 hg38 chr11 73,647,609 73,662,819 15,211
ENST00000398492.8 hg38 chr11 73,646,178 73,662,819 16,642
ENST00000398492.8 hg19 chr11 73,357,223 73,373,864 16,642
ENST00000354190.10 hg19 chr11 73,357,626 73,373,864 16,239
ENST00000227214.10 hg19 chr11 73,358,594 73,373,864 15,271
ENST00000398494.8 hg19 chr11 73,358,654 73,373,864 15,211
ENST00000535129.5 hg19 chr11 73,359,735 73,372,765 13,031
ENST00000543085.5 hg19 chr11 73,358,671 73,372,710 14,040
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