Mutation Details for c.53+1005t>G

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.53+1005t>G 
Exon or Intron  
Other Details CFTR functional assays: sweat chloride at 97 mmol/L Intestinal current measurement performed 2017 at Hannover Medical School according to ECFS SOP: sum values (carbachol, forskolin/IBMX/DIDS-insensitive histamine) in four biopsies: 7, -6, 11, -6 µA/cm*2 confirming CF-typical pattern with little CFTR residual function CFTR sequencing initially revealed three SNPs (in addition to F508del), however another patient with N1303K and this mutation was discovered 3 years later, leading to identification of this mutation as causative of the phenotype  
Contributors and Institutes
Anna-Maria Dittrich, Burkhard Tümmler, Frauke Stanke, Christian Dopfer, Pediatric CF department, Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover Germany -
Submitted Phenotype Details Typical presentation with failure to thrive within first year of life, pancreatic insufficiency, chronic PsA colonization detected at age four.  

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The Database was last updated at Apr 25, 2011