Mutation Details for c.3717G>A

cDNA Name c.3717G>A 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3849G->A 
Other Details Clinically this patient has moderate to severe pulmonary disease and is pancreatic suficient. This mutation does not cause an amino acid change, but the location of this mutation indicates that it is probably associated with abnormal splicing. This mutation was discovered on only one of 50 non-[delta]F508 CF chromosomes from Northern Irish patients that were screened. 
Contributors Cutting GR, Curristin S Graham CA, Hill AJM, Goon PKC, Nevin NC   1991-04-19
Institute Johns Hopkins University School of Medicine Baltimore, MD, USA Northern Ireland Genetics Service Belfast City Hospital Belfast, N Ireland 
Submitted Phenotype Details  
Reference Cutting et al. 1992 

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The Database was last updated at Apr 25, 2011