TRMU tRNA mitochondrial 2-thiouridylase

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
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Information

Symbol: TRMU
Type: protein-coding
Description: tRNA mitochondrial 2-thiouridylase
Entrez Gene ID: 55687
Genome: hg19
Position: chr22:46,731,611-46,753,237
Genome: hg38
Position: chr22:46,335,714-46,357,340
MIM: 610230 OMIM
HGNC: HGNC:25481 HGNC
Ensembl: ENSG00000100416 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	4	126
Likely pathogenic	0	148
Benign	0	118
Likely benign	0	776
Conflicting classifications of pathogenicity	0	86
not provided	1	2
Uncertain significance	0	202

Ranking

	ClinVar
	0
	0
	194
	1,100
	18

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

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	LCAL3
SYNONYM	MTO2
SYNONYM	MTU1
SYNONYM	TRMT
SYNONYM	TRMT1
MIM	610230 OMIM
HGNC	HGNC:25481 HGNC
Ensembl	ENSG00000100416 Ensembl
AllianceGenome	HGNC:25481

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000643137.1	hg38	chr22	46,336,145	46,357,016	20,872
ENST00000645190.1	hg38	chr22	46,335,714	46,357,340	21,627
ENST00000381019.3	hg38	chr22	46,335,745	46,357,184	21,440
ENST00000381019.3	hg19	chr22	46,731,642	46,753,081	21,440
ENST00000643137.1	hg19	chr22	46,732,042	46,752,913	20,872
ENST00000645190.1	hg19	chr22	46,731,611	46,753,237	21,627

Key	Value
strand	+
start	46,731,297
Gene Symbol	TRMU
Entrez GeneId	55,687
Chr Band	22q13
end	46,753,236
chr	chr22

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