Mutation Details for c.2735C>T

cDNA Name c.2735C>T 
Protein Name p.Ser912Leu 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name S912L 
Other Details The nucleotide change C->T at position 2876 in exon 15 results in a replacement of a serine for leucine at position 912. 
Contributors Ghanem N Goossens M   1994-11-22
Institute Unite de Recherches et Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details One patient (male, 10y) diagnosed at 2 months, is PI, has severe chronic lung disease, sweat chloride 92-104 mmol/l. The patient carries G1244V on the same allele as S912L and G542X on the other. 4 additional patients. (pers. corr. Savov) The S912L was found in a 46year-old female with 2 siblings dead of CF. One other patient R709X/S912L, asymptomatic -> S912L considered as a polymorphism. (pers. corr. Girodon)  
Reference Ghanem et al. 1994 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M   Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1994 005 15;21(2):434-6

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The Database was last updated at Apr 25, 2011