Mutation Details for c.617T>G

cDNA Name c.617T>G 
Protein Name p.Leu206Trp 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name L206W 
Other Details This mutation was identified in two unrelated CF patient from Southern France. 
Contributors Claustres M, Desgeorges M, Kjellberg P   1992-04-28
Institute Institut de Biologie Montpellier, France 
Phenotype Information CFTR2
Reference Claustres et al. 1993 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011