Mutation Details for c.314T>A

cDNA Name c.314T>A 
Protein Name p.Ile105Asn 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name I105N 
Other Details This possible mutation was found by DGGE and identified by DNA fluorescent sequencing in a CF patient, who is heterozygous for the mutation Q890X. This mutation destroys a restriction site for HinfI. 
Contributors Claustres M, Guittard C, Verellen-Dumoulin C   2000-04-27
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details The CF patient is 38 (female), PI. Q890X on the other allele. (pers. corr. Claustres) 
Reference Claustres et al. 2000 

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The Database was last updated at Apr 25, 2011