Mutation Details for c.-12_10del23

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.-12_10del23 
Exon or Intron promoter - exon 1 
Legacy Exon or Intron promoter and 5' UTR - exon 1 
Legacy Name 120del23 
Other Details This mutation was detected by exon 1 sequencing in one Portuguese CF patient patient with the F508del mutation in the other gene. 
Contributors Pacheco P, Loureiro P, Ramalho A, Lopes B.   2006-05-12
Institute Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal 
Submitted Phenotype Details This mutation was detected in a Portuguese female patient diagnosed with severe CF at 2 months of age with respiratory infections and 2 positive sweat tests. At 4 years of age, she was PI and was colonized with Pseudomonas aeruginosa.  

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The Database was last updated at Apr 25, 2011