Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
PRSS1 p.Asn29Thr (p.N29T)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Asn29Ile (p.N29I) ( 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 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- DisGeNET
- Description
- We believe that interaction between the novel IVS3+172 intronic variant and p.N29I mutation in the PRSS1 gene is associated with HP in this Malaysian Chinese family.
- Pubmed
- 21952138
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.268229954696352
- Year of publication
- 2011
Drugs