Mutation Details for c.269T>C

cDNA Name c.269T>C 
Protein Name p.Leu90Ser 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name L90S 
Other Details This mutation was found in a patient with CBAVD. 
Contributors Férec C   2000-01-01
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The CBAVD patient carries DeltaF508 on the other allele. (pers. corr. Ferec) 
Reference Férec 1998 

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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