Mutation Details for c.2758G>T

cDNA Name c.2758G>T 
Protein Name p.Val920Leu 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name V920L 
Other Details This substitution, located in a transmembrane domain and which seems conservative, was found in a CBAVD patient heterozygous for ^ÐF508, but chromosomal assignment was not possible. Eight coding regions remain to be analysed. V920L creates a MaeII restriction site. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details V920L was found in a male patient with CBAVD also carrying deltaF508 on the other allele. (pers. corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011