Annotation Detail
Information
- Associated Genes
- PRSS1 TRB
- Associated Variants
-
PRSS1 p.Arg116His (p.R116H)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Arg116His (p.R116H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_002769.5(PRSS1):c.347G>A (p.Arg116His) AND not specified
- ClinVar Allele ID
- 635801
- ClinVar RefSeq Alternation Syntax
- NM_002769.5:c.347G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-04-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001375585
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs