TRIM50 tripartite motif containing 50
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 6 |
not provided | 3 | 0 |
Uncertain significance | 0 | 104 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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112 |
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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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Category | : |
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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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Category | : |
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Search word | : | |
Filtering | : |
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | TRIM50A |
MIM | 612548 OMIM |
HGNC | HGNC:19017 HGNC |
Ensembl | ENSG00000146755 Ensembl |
AllianceGenome | HGNC:19017 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000333149.7 | hg38 | chr7 | 73,312,536 | 73,328,082 | 15,547 |
ENST00000453152.1 | hg38 | chr7 | 73,312,911 | 73,325,571 | 12,661 |
ENST00000333149.7 | hg19 | chr7 | 72,726,532 | 72,742,085 | 15,554 |
ENST00000453152.1 | hg19 | chr7 | 72,726,907 | 72,739,575 | 12,669 |
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