Mutation Details for c.2953G>C

cDNA Name c.2953G>C 
Protein Name p.Asp985His 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name D985H 
Other Details This missense mutation was found by DGGE and identified by direct sequencing in a CF patient from Southern France with [delta]F508 on the other chromosome. The change results in a new NdeII site. 
Contributors Claustres M, Guittard C   1998-08-04
Institute Institut de Biologie Montpellier, France 
Submitted Phenotype Details Patient (F) is 27y, has bronchiectasis. DeltaF508 was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres & Guittard (NL#70) 

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The Database was last updated at Apr 25, 2011