Annotation Detail
Information
- Associated Genes
- PRSS1 TRB
- Associated Variants
-
PRSS1 p.Arg116Pro (p.R116P)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Arg116Pro (p.R116P) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- ClinVar
- Description
- NM_002769.5(PRSS1):c.347G>C (p.Arg116Pro) AND Hereditary pancreatitis
- ClinVar Allele ID
- 171711
- ClinVar RefSeq Alternation Syntax
- NM_002769.5:c.347G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000149411
- ClinVar Disease
- Hereditary pancreatitis
- Observed Origin Sample
- inherited
Drugs