BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor

Information
Symbol
BUD23
Type
protein-coding
Description
BUD23 rRNA methyltransferase and ribosome maturation factor
Entrez Gene ID
114049
Genome
hg19
Position
chr7:73,097,927-73,112,542
Genome
hg38
Position
chr7:73,683,597-73,698,212
MIM
615733 OMIM
HGNC
HGNC:16405 HGNC
Ensembl
ENSG00000071462 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Conflicting classifications of pathogenicity 0 2
not provided 3 0
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
48
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 HASJ4442
SYNONYM HUSSY-3
SYNONYM MERM1
SYNONYM PP3381
SYNONYM WBMT
SYNONYM WBSCR22
MIM 615733 OMIM
HGNC HGNC:16405 HGNC
Ensembl ENSG00000071462 Ensembl
AllianceGenome HGNC:16405
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000265758.7 hg38 chr7 73,683,597 73,698,212 14,616
ENST00000265758.7 hg19 chr7 73,097,927 73,112,542 14,616
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