TRMT2A tRNA methyltransferase 2 homolog A
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| not provided | 14 | 0 |
| Uncertain significance | 0 | 94 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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100 |
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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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | HTF9C |
| MIM | 611151 OMIM |
| HGNC | HGNC:24974 HGNC |
| Ensembl | ENSG00000099899 Ensembl |
| AllianceGenome | HGNC:24974 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000439169.2 | hg38 | chr22 | 20,112,338 | 20,117,222 | 4,885 |
| ENST00000252136.12 | hg38 | chr22 | 20,111,875 | 20,117,226 | 5,352 |
| ENST00000404751.7 | hg38 | chr22 | 20,112,304 | 20,117,245 | 4,942 |
| ENST00000403707.7 | hg38 | chr22 | 20,111,875 | 20,117,392 | 5,518 |
| ENST00000252136.12 | hg19 | chr22 | 20,099,398 | 20,104,749 | 5,352 |
| ENST00000403707.7 | hg19 | chr22 | 20,099,398 | 20,104,915 | 5,518 |
| ENST00000404751.7 | hg19 | chr22 | 20,099,827 | 20,104,768 | 4,942 |
| ENST00000439169.2 | hg19 | chr22 | 20,099,861 | 20,104,745 | 4,885 |
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