PUS7L pseudouridine synthase 7 like

Information
Symbol
PUS7L
Type
protein-coding
Description
pseudouridine synthase 7 like
Entrez Gene ID
83448
Genome
hg19
Position
chr12:44,112,795-44,152,593
Genome
hg38
Position
chr12:43,718,992-43,758,790
HGNC
HGNC:25276 HGNC
Ensembl
ENSG00000129317 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 94
Ranking
ClinVar
0
0
0
96
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 :
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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
HGNC HGNC:25276 HGNC
Ensembl ENSG00000129317 Ensembl
AllianceGenome HGNC:25276
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000431332.7 hg38 chr12 43,729,763 43,758,793 29,031
ENST00000551923.5 hg38 chr12 43,729,258 43,758,773 29,516
ENST00000416848.6 hg38 chr12 43,728,607 43,758,758 30,152
ENST00000344862.10 hg38 chr12 43,718,992 43,758,790 39,799
ENST00000344862.10 hg19 chr12 44,112,795 44,152,593 39,799
ENST00000416848.6 hg19 chr12 44,122,410 44,152,561 30,152
ENST00000551923.5 hg19 chr12 44,123,061 44,152,576 29,516
ENST00000431332.7 hg19 chr12 44,123,566 44,152,596 29,031
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