PTRHD1 peptidyl-tRNA hydrolase domain containing 1

Information
Symbol
PTRHD1
Type
protein-coding
Description
peptidyl-tRNA hydrolase domain containing 1
Entrez Gene ID
391356
Genome
hg19
Position
chr2:25,012,597-25,016,260
Genome
hg38
Position
chr2:24,789,728-24,793,391
MIM
617342 OMIM
HGNC
HGNC:33782 HGNC
Ensembl
ENSG00000184924 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 4
Likely benign 0 6
not provided 2 0
Uncertain significance 0 12
Ranking
ClinVar
0
0
2
22
6
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 :
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 C2orf79
SYNONYM NEDPBA
MIM 617342 OMIM
HGNC HGNC:33782 HGNC
Ensembl ENSG00000184924 Ensembl
AllianceGenome HGNC:33782
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000328379.6 hg38 chr2 24,789,728 24,793,391 3,664
ENST00000328379.6 hg19 chr2 25,012,597 25,016,260 3,664
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