CTRC Chromosome 1
Chymotrypsin C
Upload your DNA to see your personal genotypes for variants in CTRC.
What This Gene Does
This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Chymotrypsins
Locus Type
gene with protein product
Location
1p36.21
Ensembl
ENSG00000162438
Associated Conditions (6)
Hereditary pancreatitis
Pancreatitis
chronic
susceptibility to
CTRC-related disorder
Chronic pancreatitis
Key Variants
RS111790169
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1199793577
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS121909294
Conflicting classifications of pathogenicity
Pancreatitis, chronic, susceptibility to
Health Risk
RS1265655451
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1325006359
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1344551908
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS140993290
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS142560329
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS147925927
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1570783505
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1708187577
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS183053579
Conflicting classifications of pathogenicity
Hereditary pancreatitis, CTRC-related disorder, Hereditary pancreatitis
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1557508272 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1570784592 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1708190814 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS2526289681 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS2526297384 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1168572368 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS2526290117 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS515726210 | Health Risk | Pathogenic | Hereditary pancreatitis, Pancreatitis, chronic |
| RS753459089 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS754640545 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS761774161 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS767242562 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1290349619 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS747905422 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |