TSR1 TSR1 ribosome maturation factor

Information
Symbol
TSR1
Type
protein-coding
Description
TSR1 ribosome maturation factor
Entrez Gene ID
55720
Genome
hg19
Position
chr17:2,225,690-2,239,751
Genome
hg38
Position
chr17:2,322,396-2,336,457
MIM
611214 OMIM
HGNC
HGNC:25542 HGNC
Ensembl
ENSG00000167721 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 6
Uncertain significance 0 116
Ranking
ClinVar
0
0
0
130
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
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
MIM 611214 OMIM
HGNC HGNC:25542 HGNC
Ensembl ENSG00000167721 Ensembl
AllianceGenome HGNC:25542
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000576112.2 hg38 chr17 2,333,390 2,336,457 3,068
ENST00000301364.10 hg38 chr17 2,322,396 2,336,457 14,062
ENST00000301364.10 hg19 chr17 2,225,690 2,239,751 14,062
ENST00000576112.2 hg19 chr17 2,236,684 2,239,751 3,068
Genome browser