Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Gly542Ter (p.G542*)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Gly551Asp (p.G551D) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Gly542Ter (p.G542*) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Gly551Asp (p.G551D) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- DisGeNET
- Description
- Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D.
- Pubmed
- 7681035
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.8
- Year of publication
- 1993
Drugs