Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
PRSS1 p.Arg122His (p.R122H)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asn29Thr (p.N29T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asn29Ile (p.N29I) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000486171.5, ENST00000492062.2, ENST00000311737.12 )
PRSS1 p.Asn29Thr (p.N29T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asn29Ile (p.N29I) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- DisGeNET
- Description
- The majority of patients with hereditary pancreatitis express one of two mutations (R122H or N29I) in the cationic trypsinogen gene (PRSS1 gene).
- Pubmed
- 12508340
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.268229954696352
- Year of publication
- 2003
Drugs