Annotation Detail
Information
- Associated Genes
- CFTR
- 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
- cystic fibrosis
- Source Database
- DisGeNET
- Description
- To evaluate the role of complex alleles, with two or more mutations in cis position, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the definition of the genotype-phenotype relationship in cystic fibrosis (CF), and to evaluate the functional significance of the highly controversial L997F CFTR mutation.
- Pubmed
- 20706124
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.8
- Year of publication
- 2010
Drugs