TBX20 T-box transcription factor 20
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 46 |
| Likely pathogenic | 0 | 22 |
| Benign | 8 | 58 |
| Likely benign | 0 | 338 |
| Conflicting classifications of pathogenicity | 0 | 16 |
| Uncertain significance | 0 | 586 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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240 |
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760 |
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26 |
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 | ASD4 |
| MIM | 606061 OMIM |
| HGNC | HGNC:11598 HGNC |
| Ensembl | ENSG00000164532 Ensembl |
| AllianceGenome | HGNC:11598 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000408931.4 | hg38 | chr7 | 35,202,430 | 35,254,100 | 51,671 |
| ENST00000408931.4 | hg19 | chr7 | 35,242,042 | 35,293,711 | 51,670 |
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