Mutation Details for c.2620-22A>G

cDNA Name c.2620-22A>G 
Exon or Intron intron 15 
Legacy Exon or Intron intron 14a 
Legacy Name 2752-22A/G 
Other Details This polymoprhism was found by DGGE analysis, followed by sequencing. It creates an Alu I site. The polymoprhism was found in the mother of a CF child, and it was not passed on to the child. It was found once out of 60 North East Italian CF chromosomes screened by DGGE. 
Contributors Marigo C, Bombieri C, Pignatti PF, Bonizzato A, Nicolis E, Cabrini G   1993-12-07
Institute Istituto di Scienze Biologiche Verona, Italy 
Submitted Phenotype Details The mutation was identified in the no CF mother of a homozygous for 2790-2A->G CF patient. (pers. corr. Bombieri) 
Reference Marigo et al. (NL#60) 

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The Database was last updated at Apr 25, 2011