Mutation Details for c.2361_2362ins8

cDNA Name c.2361_2362ins8 
Protein Name p.Thr788fsX? 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2493ins8 
Other Details This frameshift mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CF patient from Southern France. He carried the [delta]F508 mutation on the other chromosome. 
Contributors Claustres M, des Georges M, Guittard C   2001-05-09
Institute IURC Montpellier 
Submitted Phenotype Details The French CF patient (male) carried deltaF508 on the other allele. He died at 11 years of age. (pers. corr. Claustres) 
Reference Claustres et al. 2001 

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The Database was last updated at Apr 25, 2011