Annotation Detail
Information
- Associated Genes
- PRSS1 TRB
- Associated Variants
-
PRSS1 p.Lys23Arg (p.K23R)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Lys23Arg (p.K23R) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- ClinVar
- Description
- NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) AND Hereditary pancreatitis
- ClinVar Allele ID
- 26917
- ClinVar RefSeq Alternation Syntax
- NM_002769.5:c.68A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-08-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012653
- ClinVar Disease
- Hereditary pancreatitis
- Observed Origin Sample
- germline
- Pubmed
- 10204851
Drugs