Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
PRSS1 p.Arg116His (p.R116H)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Arg116Pro (p.R116P) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg116Leu (p.R116L) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg116His (p.R116H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg116Pro (p.R116P) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg116Leu (p.R116L) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- pancreatitis
- Source Database
- DisGeNET
- Description
- We identified three deleterious genetic changes in the three major pancreatitis associated genes (PRSS1 CNV, SPINK1 c.27delC and CFTR R117H), two of which were carried by each patient.
- Pubmed
- 22572128
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.413567379170546
- Year of publication
- 2012
Drugs