APEH acylaminoacyl-peptide hydrolase

Information
Symbol
APEH
Type
protein-coding
Description
acylaminoacyl-peptide hydrolase
Entrez Gene ID
327
Genome
hg19
Position
chr3:49,711,784-49,721,404
Genome
hg38
Position
chr3:49,674,351-49,683,971
MIM
102645 OMIM
HGNC
HGNC:586 HGNC
Ensembl
ENSG00000164062 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 1 0
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
62
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
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 AARE
SYNONYM ACPH
SYNONYM APH
SYNONYM D3F15S2
SYNONYM D3S48E
SYNONYM DNF15S2
SYNONYM OPH
MIM 102645 OMIM
HGNC HGNC:586 HGNC
Ensembl ENSG00000164062 Ensembl
AllianceGenome HGNC:586
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000296456.10 hg38 chr3 49,674,351 49,683,971 9,621
ENST00000438011.5 hg38 chr3 49,674,367 49,683,342 8,976
ENST00000296456.10 hg19 chr3 49,711,784 49,721,404 9,621
ENST00000438011.5 hg19 chr3 49,711,800 49,720,775 8,976
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