Mutation Details for c.3287T>G

cDNA Name c.3287T>G 
Protein Name p.Leu1096Arg 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name L1096R 
Other Details This variation was found by DGGE and identified by DNA sequencing in a non-affected young woman from Southern France. This possible mutation doesn't modify any restriction site. 
Contributors Claustres M, Guittard C   1998-12-08
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details This individual is NOT a CF patient. No other mutation was found. (Pers. corr. Claustres) 
Reference Claustres & Guittard 1998 

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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