BMS1 BMS1 ribosome biogenesis factor

Information
Symbol
BMS1
Type
protein-coding
Description
BMS1 ribosome biogenesis factor
Entrez Gene ID
9790
Genome
hg19
Position
chr10:43,278,243-43,330,385
Genome
hg38
Position
chr10:42,782,795-42,834,937
MIM
611448 OMIM
HGNC
HGNC:23505 HGNC
Ensembl
ENSG00000165733 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 44
Likely benign 0 68
Uncertain significance 0 152
Ranking
ClinVar
0
0
28
234
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
[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
SYNONYM ACC
SYNONYM BMS1L
MIM 611448 OMIM
HGNC HGNC:23505 HGNC
Ensembl ENSG00000165733 Ensembl
AllianceGenome HGNC:23505
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374518.6 hg38 chr10 42,782,795 42,834,937 52,143
ENST00000374518.6 hg19 chr10 43,278,243 43,330,385 52,143
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