Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Gly1349Asp (p.G1349D)
(
ENST00000003084.11,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Gly1349Asp (p.G1349D) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- DisGeNET
- Description
- The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein.
- Pubmed
- 15163550
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.8
- Year of publication
- 2004
Drugs