Mutation Details for c.2619+3A>G

cDNA Name c.2619+3A>G 
Exon or Intron intron 15 
Legacy Exon or Intron intron 14a 
Legacy Name 2751+3A->G 
Other Details Abnormal DGGE pattern in exon 14a was detected for 2751+3A->G. Direct sequence of the sample allowed us to detect this new mutation. Mutation was observed in a Spanish man with CBAVD, carrying [delta]F508 and allele 5T intron 8. Screening in 154 CF and normal chromomsomes has been negative. 
Contributors Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   1995-03-22
Institute Institut de Recerca Oncologica Barcelona, Spain 
Submitted Phenotype Details The mutation was found in a 49 years old PS CBAVD patient carrying deltaF508 on the other allele. The mutation was also found in a PS CF patient. (pers. corr. Casals) 
Reference Casals et al. (NL#65) 

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The Database was last updated at Apr 25, 2011