PRSS1 Chromosome 7
Serine protease 1
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What This Gene Does
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Serine proteases|Elastases"
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000204983
Associated Conditions (8)
Hereditary pancreatitis
Acute myeloid leukemia
Nonpapillary renal cell carcinoma
Trypsinogen deficiency
Vitamin D-dependent rickets type II with alopecia
Myoepithelial tumor
PRSS1-related disorder
Recurrent pancreatitis
Key Variants
RS117497341
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1232891794
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1376416883
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS140591237
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1414385892
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS141554682
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS143909348
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Acute myeloid leukemia, Hereditary pancreatitis
Health Risk
RS144422014
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Acute myeloid leukemia, Nonpapillary renal cell carcinoma
Health Risk
RS145867820
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS146076691
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS147366981
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS147765409
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117497341 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1232891794 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1376416883 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS140591237 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1414385892 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS141554682 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS143909348 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Acute myeloid leukemia, Hereditary pancreatitis |
| RS144422014 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Acute myeloid leukemia, Nonpapillary renal cell carcinoma |
| RS145867820 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS146076691 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS147366981 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS147765409 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1554499091 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1554499629 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1804561 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS189270875 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS193922655 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS193922656 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS199507985 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS200254850 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS201165989 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS201550522 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS201719096 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS397507440 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS541223359 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS561097415 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS61735002 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS6666 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS747228052 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS757111793 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS762980620 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS776924834 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS778658500 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS111033567 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS199769221 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS768853338 | Health Risk | Likely pathogenic | — |
| RS111033566 | Health Risk | Pathogenic | Hereditary pancreatitis, Trypsinogen deficiency, Vitamin D-dependent rickets type II with alopecia |
| RS111033568 | Health Risk | Pathogenic | Hereditary pancreatitis, PRSS1-related disorder, Hereditary pancreatitis |
| RS267606982 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS397507439 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS111033565 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pancreatitis, PRSS1-related disorder, Hereditary pancreatitis |
| RS202003805 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pancreatitis, Recurrent pancreatitis, Hereditary pancreatitis |
| RS387906698 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |