Mutation Details for c.350G>T

cDNA Name c.350G>T 
Protein Name p.Arg117Leu 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name R117L 
Other Details This mutation was identified by DGGE and direct sequencing and was identified on one CF chromosome of Italian origin. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Mercier B, Novelli G, Sanguiolo F, Dallapiccola B   1994-02-14
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The Italian CF patient (female) was diagnosed at 2 months of age. She has no pulmonary symptoms, is PS, sweat chloride 36-49 mmol/l. The patient carries DeltaF508 on the other allele. (Padoan et all 2001 and pers.corr. Ferec) 
Reference FĂ©rec et al. 1995 

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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