PTRH2 peptidyl-tRNA hydrolase 2

Information
Symbol
PTRH2
Type
protein-coding
Description
peptidyl-tRNA hydrolase 2
Entrez Gene ID
51651
Genome
hg19
Position
chr17:57,774,669-57,784,987
Genome
hg38
Position
chr17:59,697,308-59,707,626
MIM
608625 OMIM
HGNC
HGNC:24265 HGNC
Ensembl
ENSG00000141378 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 8
Benign 0 6
Likely benign 0 26
not provided 1 0
Uncertain significance 0 26
Ranking
ClinVar
0
0
10
56
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
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 BIT1
SYNONYM CFAP37
SYNONYM CGI-147
SYNONYM IMNEPD
SYNONYM PTH
SYNONYM PTH 2
SYNONYM PTH2
MIM 608625 OMIM
HGNC HGNC:24265 HGNC
Ensembl ENSG00000141378 Ensembl
AllianceGenome HGNC:24265
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000470557.2 hg38 chr17 59,697,312 59,701,425 4,114
ENST00000409433.2 hg38 chr17 59,697,308 59,707,626 10,319
ENST00000393038.3 hg38 chr17 59,697,308 59,707,430 10,123
ENST00000393038.3 hg19 chr17 57,774,669 57,784,791 10,123
ENST00000409433.2 hg19 chr17 57,774,669 57,784,987 10,319
ENST00000470557.2 hg19 chr17 57,774,673 57,778,786 4,114
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