Annotation Detail
Information
- Associated Genes
- PRSS1 TRB
- Associated Variants
-
PRSS1 p.Asn29Thr (p.N29T)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Asn29Thr (p.N29T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- ClinVar
- Description
- NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr) AND Hereditary pancreatitis
- ClinVar Allele ID
- 46928
- ClinVar RefSeq Alternation Syntax
- NM_002769.5:c.86A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000031923
- ClinVar Disease
- Hereditary pancreatitis
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs