TPSAB1 tryptase alpha/beta 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 68 |
| Likely benign | 0 | 10 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 40 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
118 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | TPS1 |
| SYNONYM | TPS2 |
| SYNONYM | TPSB1 |
| SYNONYM | TPSB2 |
| SYNONYM | Tryptase-2 |
| MIM | 191080 OMIM |
| HGNC | HGNC:12019 HGNC |
| Ensembl | ENSG00000172236 Ensembl |
| AllianceGenome | HGNC:12019 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000561736.3 | hg38 | chr16 | 1,240,706 | 1,242,554 | 1,849 |
| ENST00000677899.1 | hg38 | chr16 | 1,240,379 | 1,242,554 | 2,176 |
| ENST00000711396.1 | hg38 | chr16 | 1,240,706 | 1,242,554 | 1,849 |
| ENST00000461509.6 | hg38 | chr16 | 1,240,724 | 1,242,554 | 1,831 |
| ENST00000338844.8 | hg38 | chr16 | 1,240,705 | 1,242,554 | 1,850 |
| ENST00000677899.1 | hg19 | chr16 | 1,290,380 | 1,292,555 | 2,176 |
| ENST00000338844.8 | hg19 | chr16 | 1,290,706 | 1,292,555 | 1,850 |
| ENST00000561736.3 | hg19 | chr16 | 1,290,707 | 1,292,555 | 1,849 |
| ENST00000711396.1 | hg19 | chr16 | 1,290,707 | 1,292,555 | 1,849 |
| ENST00000461509.6 | hg19 | chr16 | 1,290,725 | 1,292,555 | 1,831 |
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