TSR2 TSR2 ribosome maturation factor

Information
Symbol
TSR2
Type
protein-coding
Description
TSR2 ribosome maturation factor
Entrez Gene ID
90121
Genome
hg19
Position
chrX:54,466,837-54,474,465
Genome
hg38
Position
chrX:54,440,404-54,448,032
MIM
300945 OMIM
HGNC
HGNC:25455 HGNC
Ensembl
ENSG00000158526 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Likely pathogenic 0 10
Benign 0 30
Likely benign 0 60
Conflicting classifications of pathogenicity 0 6
not provided 6 0
Uncertain significance 0 106
Ranking
ClinVar
0
0
40
156
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 :
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 DBA14
SYNONYM DT1P1A10
SYNONYM WGG1
MIM 300945 OMIM
HGNC HGNC:25455 HGNC
Ensembl ENSG00000158526 Ensembl
AllianceGenome HGNC:25455
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000375151.5 hg38 chrX 54,440,404 54,448,032 7,629
ENST00000375151.5 hg19 chrX 54,466,837 54,474,465 7,629
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