Mutation Details for c.3680T>C

cDNA Name c.3680T>C 
Protein Name p.Leu1227Ser 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name L1227S 
Other Details This missense mutation in CFTR exon 19 was detected by DGGE and identified by direct sequencing. This nucleotide change T->C at position 3812 (L1227S) in exon 19 was associated with a CUAVD phenotype. 
Contributors Dubourg C, David V   1997-08-25
Institute Laboratoire de Génétique Moléculaire and Faculté de Medicine RENNES Cedex France 
Submitted Phenotype Details Patient (M) is >31y, PS, mild lung disease, normal sweat-chloride levels and CUAVD. 3272-26A/G was found on the other allele. (Pers. corr. Dubourg) 
Reference Dubourg & David (NL#70) 

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The Database was last updated at Apr 25, 2011