Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
PRSS1 p.Ala121Thr (p.A121T)
(
ENST00000492062.2,
ENST00000311737.12,
ENST00000486171.5 )
PRSS1 p.Ala121Ser (p.A121S) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Ala121Thr (p.A121T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Ala121Ser (p.A121S) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- DisGeNET
- Description
- A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site.
- Pubmed
- 18511571
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.268229954696352
- Year of publication
- 2008
Drugs