Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
CFTR p.Leu889Phe (p.L889F)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Leu997Phe (p.L997F) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Leu889Phe (p.L889F) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Leu997Phe (p.L997F) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- pancreatitis idiopathic
- Source Database
- DisGeNET
- Description
- Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with a heterozygous p.L997F missense mutation in the unlinked CFTR gene, a lesion previously reported to be associated with a variety of cystic fibrosis-related diseases including idiopathic pancreatitis.
- Pubmed
- 17681820
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2007
Drugs