TSR2 TSR2 ribosome maturation factor
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 6 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 30 |
Likely benign | 0 | 60 |
Conflicting classifications of pathogenicity | 0 | 6 |
not provided | 6 | 0 |
Uncertain significance | 0 | 106 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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40 |
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156 |
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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 | : | |
Filtering | : |
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 |
---|---|
SYNONYM | DBA14 |
SYNONYM | DT1P1A10 |
SYNONYM | WGG1 |
MIM | 300945 OMIM |
HGNC | HGNC:25455 HGNC |
Ensembl | ENSG00000158526 Ensembl |
AllianceGenome | HGNC:25455 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000375151.5 | hg38 | chrX | 54,440,404 | 54,448,032 | 7,629 |
ENST00000375151.5 | hg19 | chrX | 54,466,837 | 54,474,465 | 7,629 |
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