Mutation Details for c.2764_2765insAG

cDNA Name c.2764_2765insAG 
Protein Name p.Val922GlufsX2 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2896insAG 
Other Details This mutation was found by DGGE and identified by DNA sequencing in a CBAVD patient who carries D1152H on the other chromosome. This insertion leads to a stop codon at the next residue (codon 923). It does not modifiy any restriction site. This frameshift mutation was also found by Bienvenu T, Bousquet S, Kaplan JC, Beldjord C (March 21, (NL#69)) by DGGE and direct sequencing. This mutation 2894 Ins AG is not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. It was found in a CF adult male patient, currently 20 years of age. The patient presents a classical form of CF. The patient has [delta]F508 on the other chromosome.  
Contributors Claustres M, Guittard C, Desgorges M, Carles S and Bienvenu et al.   1997-02-12
Institute Institut de Biologie Montpellier Laboratoire de Biochimie et Génétique Moléculaire 
Submitted Phenotype Details The CBAVD 34y male patient carries D1152H on the other allele.(de Meeus 1998) 
Reference Claustres et al. (NL#69); Bienvenu et al. (NL#69) 

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The Database was last updated at Apr 25, 2011