Mutation Details for c.1704G>T

cDNA Name c.1704G>T 
Protein Name p.Leu568Phe 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name L568F 
Other Details L568F was found in a heterozygous CBAVD patient with yet unidentified mutations on their other alleles. 
Contributors Dörk T, Schmidtke J, Stuhrmann M   1996-10-06
Institute Insitut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details One male patient, PS, diagnosed with CBAVD, carrying D1152H on the other allele. (pers.corr.Dork) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011