PLEKHD1 pleckstrin homology and coiled-coil domain containing D1

Information
Symbol
PLEKHD1
Type
protein-coding
Description
pleckstrin homology and coiled-coil domain containing D1
Entrez Gene ID
400224
Genome
hg19
Position
chr14:69,951,445-69,998,268
Genome
hg38
Position
chr14:69,484,728-69,531,551
HGNC
HGNC:20148 HGNC
Ensembl
ENSG00000175985 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 6
Uncertain significance 0 74
Ranking
ClinVar
0
0
0
86
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 :
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 UPF0639
HGNC HGNC:20148 HGNC
Ensembl ENSG00000175985 Ensembl
AllianceGenome HGNC:20148
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000322564.9 hg38 chr14 69,484,728 69,531,551 46,824
ENST00000322564.9 hg19 chr14 69,951,445 69,998,268 46,824
Genome browser