Annotation Detail
Information
- Associated Genes
- ELAC2
- Associated Variants
-
ELAC2 MUTATION
ELAC2 MUTATION
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- DisGeNET
- Description
- Furthermore, only the two previously reported missense changes (Ser217Leu and Ala541Thr) were identified by mutational analysis of all HPC2/ELAC exons in 93 probands with HPC.
- Pubmed
- 11254448
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2001
Drugs