Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
PRSS1 p.Arg122His (p.R122H)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000510027.2, ENST00000296695.10 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000486171.5, ENST00000492062.2, ENST00000311737.12 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- DisGeNET
- Description
- The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S mutation of SPINK I is the most frequent genetic risk factor associated with IP.
- Pubmed
- 11866271
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.244885953697445
- Year of publication
- 2002
Drugs