DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor

Information
Symbol
DIMT1
Type
protein-coding
Description
DIM1 rRNA methyltransferase and ribosome maturation factor
Entrez Gene ID
27292
Genome
hg19
Position
chr5:61,683,081-61,699,732
Genome
hg38
Position
chr5:62,387,254-62,403,905
MIM
612499 OMIM
HGNC
HGNC:30217 HGNC
Ensembl
ENSG00000086189 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
28
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 :
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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 DIM1
SYNONYM DIMT1L
SYNONYM HSA9761
SYNONYM HUSSY5
MIM 612499 OMIM
HGNC HGNC:30217 HGNC
Ensembl ENSG00000086189 Ensembl
AllianceGenome HGNC:30217
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000199320.9 hg38 chr5 62,387,254 62,403,905 16,652
ENST00000681192.1 hg38 chr5 62,388,527 62,403,902 15,376
ENST00000506390.5 hg38 chr5 62,391,717 62,403,898 12,182
ENST00000681272.1 hg38 chr5 62,388,527 62,403,928 15,402
ENST00000680062.1 hg38 chr5 62,387,965 62,403,624 15,660
ENST00000679751.1 hg38 chr5 62,388,527 62,403,902 15,376
ENST00000199320.9 hg19 chr5 61,683,081 61,699,732 16,652
ENST00000680062.1 hg19 chr5 61,683,792 61,699,451 15,660
ENST00000679751.1 hg19 chr5 61,684,354 61,699,729 15,376
ENST00000506390.5 hg19 chr5 61,687,544 61,699,725 12,182
ENST00000681192.1 hg19 chr5 61,684,354 61,699,729 15,376
ENST00000681272.1 hg19 chr5 61,684,354 61,699,755 15,402
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