PLEKHF1 pleckstrin homology and FYVE domain containing 1

Information
Symbol
PLEKHF1
Type
protein-coding
Description
pleckstrin homology and FYVE domain containing 1
Entrez Gene ID
79156
Genome
hg19
Position
chr19:30,156,368-30,166,384
Genome
hg38
Position
chr19:29,665,461-29,675,477
MIM
615200 OMIM
HGNC
HGNC:20764 HGNC
Ensembl
ENSG00000166289 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
Uncertain significance 0 48
Ranking
ClinVar
0
0
2
56
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
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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 :
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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 APPD
SYNONYM LAPF
SYNONYM PHAFIN1
SYNONYM ZFYVE15
MIM 615200 OMIM
HGNC HGNC:20764 HGNC
Ensembl ENSG00000166289 Ensembl
AllianceGenome HGNC:20764
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000592810.1 hg38 chr19 29,665,459 29,674,843 9,385
ENST00000436066.4 hg38 chr19 29,665,461 29,675,477 10,017
ENST00000592810.1 hg19 chr19 30,156,366 30,165,750 9,385
ENST00000436066.4 hg19 chr19 30,156,368 30,166,384 10,017
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