Mutation Details for c.2834C>T

cDNA Name c.2834C>T 
Protein Name p.Ser945Leu 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name S945L 
Other Details This mutation was detected by SSCP analysis then identified by sequencing. The nucleotide change is a C->T at position 2966 and destroys a TaqI restriction site. 
Contributors Claustres M, Desgeorges M, Kjellberg P   1992-05-14
Institute Laboratoire de Biochimie Genetique 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