PHLDB1 pleckstrin homology like domain family B member 1

Information
Symbol
PHLDB1
Type
protein-coding
Description
pleckstrin homology like domain family B member 1
Entrez Gene ID
23187
Genome
hg19
Position
chr11:118,477,155-118,528,741
Genome
hg38
Position
chr11:118,606,440-118,658,031
MIM
612834 OMIM
HGNC
HGNC:23697 HGNC
Ensembl
ENSG00000019144 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 2
Likely benign 0 12
Uncertain significance 0 142
Ranking
ClinVar
0
0
0
156
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 LL5A
SYNONYM LL5alpha
SYNONYM OI23
MIM 612834 OMIM
HGNC HGNC:23697 HGNC
Ensembl ENSG00000019144 Ensembl
AllianceGenome HGNC:23697
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000361417.6 hg38 chr11 118,606,440 118,658,031 51,592
ENST00000356063.9 hg38 chr11 118,607,643 118,658,025 50,383
ENST00000600882.6 hg38 chr11 118,607,615 118,658,028 50,414
ENST00000361417.6 hg19 chr11 118,477,155 118,528,741 51,587
ENST00000356063.9 hg19 chr11 118,478,358 118,528,735 50,378
ENST00000600882.6 hg19 chr11 118,478,330 118,528,738 50,409
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