Annotation Detail
Information
- Associated Genes
- PRSS1 TRB
- Associated Variants
-
PRSS1 p.Ala121Thr (p.A121T)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Ala121Thr (p.A121T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- ClinVar
- Description
- NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) AND Hereditary pancreatitis
- ClinVar Allele ID
- 26924
- ClinVar RefSeq Alternation Syntax
- NM_002769.5:c.361G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-06
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012660
- ClinVar Disease
- Hereditary pancreatitis
- Observed Origin Sample
- germline
- Pubmed
- 20452997
- Pubmed
- 18511571
Drugs