Mutation Details for c.2571G>A

cDNA Name c.2571G>A 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2703G/A 
Other Details This polymorphism was found by DGGE and identified by DNA sequencing in a CF patient from South America. It creates a HindIII restriction site. 
Contributors Claustres M, Guittard C, Desgorges M, Ramsay M   1997-07-23
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details 2703G/A was found in a 2y F, PS, with chronic lung disease and 72/82 mmol/l sweat chloride - in a South Africa patient. (pers. corr. Claustres)  
Reference Claustres et al. (NL#69) 

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The Database was last updated at Apr 25, 2011