Mutation Details for c.224G>T

cDNA Name c.224G>T 
Protein Name p.Arg75Leu 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name R75L 
Other Details The mucleotide change G->T at position 356 (codon 75 in exon 3) has been found in an infertile man with CBAVD having no manifestation of gastrointestinal or pulmonary disease. He carries the [delta]F508 mutation on the other chromosome. 
Contributors Costes B, Ghanem N, Goossens M   1990-05-05
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details The R75L mutation was found in a 42y male diagnosed with CBAVD at 33y carrying F508del on the other allele. (pers. corr. Girodon)  
Reference Costes et al. (NL#55) 

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The Database was last updated at Apr 25, 2011