Mutation Details for c.323C>T

cDNA Name c.323C>T 
Protein Name p.Ser108Phe 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name S108F 
Other Details This mutation was identified by direct DNA sequencing with an automatic ABI 373A sequencer and is a single base substitution from C to T at position 455 of the CFTR gene. We have detected this mutation by SSCP analysis once in 25 non-[delta]F508 chromosomes. The patient is a 19 year old German young man. He carries a [delta]F508 mutation at his other CF chromosome. 
Contributors Seydewitz HH, Witt I, Muller H   1994-02-22
Institute Albert-Ludwigs-Universitat Freiburg 
Submitted Phenotype Details The patient is 19 (male), diagnosed at 19, PS, with mild pulmonary disease (FEV1 75%), bronchiectasis, sweat chloride 118 mEq/l. DelF508 on the other allele. (pers. corr. Seydewitz) 
Reference Seydewitz et al. 1995 

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The Database was last updated at Apr 25, 2011