Mutation Details for c.598T>A

cDNA Name c.598T>A 
Protein Name p.Phe200Ile 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name F200I 
Other Details This mutation was detected by D-HPLC and identified by DNA fluorescent sequencing in a CBAVD patient from Southern France heterozygous for the [delta]F508 mutation. No parental DNA was available at that time to determine on which allele F200I was carried. 
Contributors Claustres M, des Georges M, Guittard C   2002-03-12
Institute IURC Montpellier 
Submitted Phenotype Details One patient (45, male) carrying delF508 on the other allele, CBAVD (pers. corr. Claustres) 
Reference Claustres et al. 2002 

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The Database was last updated at Apr 25, 2011