Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Arg75Gln (p.R75Q)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699596.1,
ENST00000699597.1,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg75Leu (p.R75L) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Arg75Gln (p.R75Q) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Arg75Leu (p.R75L) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- pancreatitis
- Source Database
- DisGeNET
- Description
- The CFTR variant p.R75Q causes a selective defect in bicarbonate conductance and increases risk of pancreatitis.
- Pubmed
- 20977904
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.224835080061116
- Year of publication
- 2011
Drugs