Mutation Details for c.1191_1192insA

cDNA Name c.1191_1192insA 
Protein Name p.Thr398AsnfsX13 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name 1323insA 
Other Details This mutation was detected by DGGE and identified by direct sequencing in a Columbian patient. It is not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. 
Contributors Vidaud D, Keyeux G, Bousquet S, Beldjord C, Bienvenu T   1998-06-04
Institute Groupe Hospitalier Cochin Paris, France 
Submitted Phenotype Details  
Reference Vidaud et al. (NL#70) 

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The Database was last updated at Apr 25, 2011