Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Asn1303Lys (p.N1303K)
(
ENST00000003084.11,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Asn1303Lys (p.N1303K) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- Pancreatic Insufficiency
- Source Database
- DisGeNET
- Description
- An Egyptian infant with the common CFTR mutation N1303K in exon 21 developed alkalosis, electrolyte disturbance, and pancreas insufficiency.
- Pubmed
- 15357568
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
- Year of publication
- 2004
Drugs