MRM2 mitochondrial rRNA methyltransferase 2

Information
Symbol
MRM2
Type
protein-coding
Description
mitochondrial rRNA methyltransferase 2
Entrez Gene ID
29960
Genome
hg19
Position
chr7:2,273,830-2,281,840
Genome
hg38
Position
chr7:2,234,195-2,242,205
MIM
606906 OMIM
HGNC
HGNC:16352 HGNC
Ensembl
ENSG00000122687 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 6
Likely benign 0 8
Uncertain significance 0 10
Ranking
ClinVar
0
0
6
18
4
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
SYNONYM FJH1
SYNONYM FTSJ2
SYNONYM HEL97
SYNONYM MTDPS17
SYNONYM RRMJ2
MIM 606906 OMIM
HGNC HGNC:16352 HGNC
Ensembl ENSG00000122687 Ensembl
AllianceGenome HGNC:16352
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000440306.3 hg38 chr7 2,234,293 2,241,303 7,011
ENST00000242257.14 hg38 chr7 2,234,195 2,242,205 8,011
ENST00000242257.14 hg19 chr7 2,273,830 2,281,840 8,011
ENST00000440306.3 hg19 chr7 2,273,928 2,280,938 7,011
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