Mutation Details for c.2324_2325delAC

cDNA Name c.2324_2325delAC 
Protein Name p.His775LeufsX3 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2456delAC 
Other Details This frameshift mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CF patient from Southern France who carries the [delta]F508 mutation in trans. 
Contributors Claustres M, des Georges M, Guittard C    2001-05-09
Institute IURC Montpellier 
Submitted Phenotype Details The patient (female, 1y) was diagnosed at birth with meconium ileus. She has positive sweat chloride tests. She carries deltaF508 on the other allele. (pers. corr. Claustres) 
Reference Claustres et al. 2001 

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The Database was last updated at Apr 25, 2011