Mutation Details for c.305T>C

cDNA Name c.305T>C 
Protein Name p.Leu102Pro 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L102P 
Other Details The L102P mutation was detected in the CFTR gene by DGGE and identified by direct sequencing. This mutation has been found in a child with severe CF. The other allele carries a R553X mutation. 
Contributors Baudis M., Gambert C.,Kitzis A.   2001-05-21
Institute Laboratoire de Génétique Cellulaire et Moléculaire, CHU de Poitiers, France 
Submitted Phenotype Details the mutation was identified in a female patient (6 years old) diagnosed at 4 with severe CF. She carries R553X on the other allele. 

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The Database was last updated at Apr 25, 2011