Mutation Details for c.1392+6_1392+7insA

cDNA Name c.1392+6_1392+7insA 
Exon or Intron intron 10 
Legacy Exon or Intron intron 9 
Legacy Name 1524+6insC 
Other Details An insertion of a C nucleotide at position 1524 + 6. This sequence variation is associated was discovered in 3 non-[delta]F508 CF chromosomes of 50 screened. mRNA is not yet available from these patients, however we would like to suggest that this change could affect splicing because a C nucleotide is very rare at this position within mammalian 5'-splice sites (T 47%, G 22%, A 16%, C 15%). 
Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Neldjord B   1993-01-31
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The mutation was found in 3 brothers, carrying G85E on the other allele, PI, with positive sweat chloride and moderate respiratory symptoms. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#61) 

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The Database was last updated at Apr 25, 2011