Annotation Detail
Information
- Associated Genes
- PRSS1 TRB
- Associated Variants
-
PRSS1 p.Arg122His (p.R122H)
(
ENST00000486171.5,
ENST00000492062.2,
ENST00000311737.12 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- PRSS1-related disorder
- Source Database
- ClinVar
- Description
- NM_002769.5(PRSS1):c.365G>A (p.Arg122His) AND PRSS1-related disorder
- ClinVar Allele ID
- 26915
- ClinVar RefSeq Alternation Syntax
- NM_002769.5:c.365G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003944816
- ClinVar Disease
- PRSS1-related disorder
- Observed Origin Sample
- germline
Drugs