Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR MUTATION
CFTR MUTATION
CFTR p.Arg74Trp (p.R74W) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Asp1270Asn (p.D1270N) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Asp1270Tyr (p.D1270Y) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Arg74Trp (p.R74W) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Asp1270Asn (p.D1270N) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Asp1270Tyr (p.D1270Y) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- Congenital bilateral aplasia of vas deferens
- Source Database
- DisGeNET
- Description
- We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype.
- Pubmed
- 10386624
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.509163832444431
- Year of publication
- 1999
Drugs