TRMT1 tRNA methyltransferase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 4 | 26 |
Likely pathogenic | 0 | 26 |
Benign | 0 | 16 |
Likely benign | 0 | 54 |
Uncertain significance | 0 | 146 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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36 |
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212 |
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8 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | MRT68 |
SYNONYM | TRM1 |
MIM | 611669 OMIM |
HGNC | HGNC:25980 HGNC |
Ensembl | ENSG00000104907 Ensembl |
AllianceGenome | HGNC:25980 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000357720.9 | hg38 | chr19 | 13,104,907 | 13,116,740 | 11,834 |
ENST00000592062.5 | hg38 | chr19 | 13,104,907 | 13,117,567 | 12,661 |
ENST00000221504.12 | hg38 | chr19 | 13,104,907 | 13,116,657 | 11,751 |
ENST00000437766.5 | hg38 | chr19 | 13,104,902 | 13,116,649 | 11,748 |
ENST00000221504.12 | hg19 | chr19 | 13,215,721 | 13,227,471 | 11,751 |
ENST00000357720.9 | hg19 | chr19 | 13,215,721 | 13,227,554 | 11,834 |
ENST00000437766.5 | hg19 | chr19 | 13,215,716 | 13,227,463 | 11,748 |
ENST00000592062.5 | hg19 | chr19 | 13,215,721 | 13,228,381 | 12,661 |
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