Mutation Details for c.1766+1G>C

cDNA Name c.1766+1G>C 
Exon or Intron intron 13 
Legacy Exon or Intron intron 12 
Legacy Name 1898+1G->C 
Other Details The 1898+1G->C splice mutation (5'-G/C-TATGTTCTTTGAA-3') in intron 12 was found in 1 out of 63 unrelated Belgian CF chromosomes (14 [delta]F508 and 49 non-[delta]F508 CF chromosomes). This is the second mutation reported in which the nucleotide at position 1898+1 is mutated (1898 +1G->A; Strong et al., NL #31).  
Contributors Cuppens H, Marynen P, Cassiman JJ   1991-11-15
Institute Center for Human Genetics Leuven, Belgium 
Submitted Phenotype Details The mutation was found in a 27 years old female CF patient, diagnosed at 11 years of age, who is PI, has sweat chloride 113 mmol/l and mild pulmonary disease (FEV1 79%). She carries deltaF508 on the other allele. (pers corr. DeBoeck) 
Reference Cuppens et al. 1993 

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The Database was last updated at Apr 25, 2011