Mutation Details for c.717delG

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.717delG 
Protein Name p.Leu240X 
Exon or Intron  
Other Details The child was homozygous for deltion of nucleotide in codon 239 rseulting in GGG>GGC ( p.gly239gly) and a stop codon at exon 240 p.Leu240X. The parents were heterozygous for the mutation 
Contributors and Institutes
Dr Renu Saxena / Dr IC Verma/ - Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi-110060
Submitted Phenotype Details One year old male child with cystic fibrosis found to be homozygous for c.717delG. Sweat chloride test positive 

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The Database was last updated at Apr 25, 2011