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
- Gastrointestinal symptom
- Source Database
- DisGeNET
- Description
- The clinical features of the 6 year old were characterised by severe gastrointestinal and as yet only mild pulmonary complications whereas the 25 year old manifested severe pulmonary and gastrointestinal symptoms indicating that the N1303K mutation of the C-terminal CFTR nucleotide binding fold significantly impairs protein function in both the pancreas and the lungs.
- Pubmed
- 1283148
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 1992
Drugs