MRM1 mitochondrial rRNA methyltransferase 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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48 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
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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Category | : |
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Search word | : | |
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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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MIM | 618099 OMIM |
HGNC | HGNC:26202 HGNC |
Ensembl | ENSG00000278619 Ensembl |
AllianceGenome | HGNC:26202 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000612760.1 | hg38 | chr17 | 36,601,962 | 36,608,964 | 7,003 |
ENST00000614766.5 | hg38 | chr17 | 36,601,583 | 36,608,964 | 7,382 |
ENST00000614766.5 | hg19 | chr17 | 34,958,012 | 34,965,400 | 7,389 |
ENST00000612760.1 | hg19 | chr17 | 34,958,391 | 34,965,400 | 7,010 |
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