PRSS23 serine protease 23
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 12 | 72 |
Likely pathogenic | 2 | 28 |
Benign | 4 | 90 |
Likely benign | 0 | 140 |
Conflicting classifications of pathogenicity | 0 | 18 |
Uncertain significance | 0 | 464 |
Ranking
ClinVar | |
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0 |
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0 |
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48 |
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726 |
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10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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Variants
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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 |
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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | SIG13 |
SYNONYM | SPUVE |
SYNONYM | ZSIG13 |
MIM | 618376 OMIM |
HGNC | HGNC:14370 HGNC |
Ensembl | ENSG00000150687 Ensembl |
AllianceGenome | HGNC:14370 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000533902.2 | hg38 | chr11 | 86,800,521 | 86,952,910 | 152,390 |
ENST00000280258.6 | hg38 | chr11 | 86,800,542 | 86,811,233 | 10,692 |
ENST00000533902.2 | hg19 | chr11 | 86,511,563 | 86,663,952 | 152,390 |
ENST00000280258.6 | hg19 | chr11 | 86,511,584 | 86,522,275 | 10,692 |
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