Mutation Details for c.4351C>T

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

cDNA Name c.4351C>T 
Protein Name p.Pro1451Ser 
Exon or Intron  
Other Details The mutation was detected by direct DNA sequencing.  
Contributors and Institutes
Alper Özgül - Bingöl Aysen
Basaran Erdem, - Akdeniz University Faculty of Medicine, Departments of Medical Biology and Genetics, Pediatrics,Division of Immunology and Allergy, Antalya
Submitted Phenotype Details The mutation was identified in a Turkish male (11 months of age)CF patient presenting with pneumonia,hypothyroidy, large ASD, growth retardation, atypical face, right kidney agenesis,sweat chloride level was 30,60mmol/L born from a 1 degree consanguineous parents. The other mutant allele is unidentified.  

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The Database was last updated at Apr 25, 2011