Mutation Details for c.2620-26A>G

cDNA Name c.2620-26A>G 
Exon or Intron intron 15 
Legacy Exon or Intron intron 14a 
Legacy Name 2752-26A->G 
Other Details 2752-26A->G was detected by DGGE and identified by direct sequencing out of 472 CF alleles tested. The patient, of Greek origin, is currently 2.5 years of age. The patient's DNA was also analyzed by DGGE for exons 3, 4, 5, 6a, 7, 8, 10, 11, 12, 14a, 14b, 15, 17b, 18, 19, 20, 21 and for mutation 3849+10kbC->T with HphI, but no other alteration could be detected. 2752-26A->G probably creates an alternative splice site that competes with the normal acceptor site, causing reduction of full length mRNA synthesis. 
Contributors Tzetis M, Antoniadi T, Kanavakis E   1995-05-30
Institute Athens University First Dept. of Pediatrics 
Submitted Phenotype Details The mutation was found in a CF patient (male, 2.5 years old) PS, with no respiratory symptoms and sweat chloride 43-56 mmol/l, whose other mutation was IVS8-5T. (Tzetis et al. 1997) 
Reference Tzetis et al. (NL#66) 

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The Database was last updated at Apr 25, 2011