TSPAN31 tetraspanin 31
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 3 | 34 |
| Likely benign | 1 | 290 |
| Conflicting classifications of pathogenicity | 0 | 48 |
| not provided | 35 | 0 |
| Uncertain significance | 9 | 418 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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238 |
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494 |
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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
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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 | |||||||||||
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| 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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| 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 | SAS |
| MIM | 181035 OMIM |
| HGNC | HGNC:10539 HGNC |
| Ensembl | ENSG00000135452 Ensembl |
| AllianceGenome | HGNC:10539 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000547472.5 | hg38 | chr12 | 57,745,066 | 57,747,292 | 2,227 |
| ENST00000257910.8 | hg38 | chr12 | 57,745,039 | 57,750,219 | 5,181 |
| ENST00000547992.5 | hg38 | chr12 | 57,745,023 | 57,750,211 | 5,189 |
| ENST00000547992.5 | hg19 | chr12 | 58,138,806 | 58,143,994 | 5,189 |
| ENST00000257910.8 | hg19 | chr12 | 58,138,822 | 58,144,002 | 5,181 |
| ENST00000547472.5 | hg19 | chr12 | 58,138,849 | 58,141,075 | 2,227 |
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