Mutation Details for c.870-2A>G

cDNA Name c.870-2A>G 
Exon or Intron intron 7 
Legacy Exon or Intron intron 6b 
Legacy Name 1002-2A>G 
Other Details This novel mutation has been identified by SSCA/HD after complete CFTR gene analysis and direct sequencing on one CF allele 
Contributors L. Ramos, J. Giménez, J. Manzanares*, T. Casals    2008-06-09
Institute CGMM-IDIBELL. Barcelona. Spain *Cystic Fibrosis Unit, Hospital 12 de Octubre. Madrid. Spain  
Submitted Phenotype Details Female (20y) with lung disease, Pseudomonas, pancreatic insufficiency and positive sweat test. The patient presents the genotype [G1244E] + [1002-2A>G]. She comes from El Salvador (Latin America) (pers.corr. T. Casals). 

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The Database was last updated at Apr 25, 2011