Mutation Details for c.1713_1714delAG

cDNA Name c.1713_1714delAG 
Protein Name p.Asp572LeufsX16 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name 1845delAG/1846delGA 
Other Details This mutation was detected by DGGE analysis followed by direct sequencing in a CF patient carrying [delta]F508 in the other chromosome. It was found once out of 800 Italian CF chromosomes and 100 control chromosomes from Italian population. It was identified in a CF male presenting with meconium ileus and sweat test of 130 mEq/l chloride. At 13 months old, he is in very good clinical condition with growth in the normal range and no pulmonary disease. 
Contributors Seia M, Padoan R, Cantù A, Giunta A   1999-09-23
Institute Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Università degli Studi, Italy 
Submitted Phenotype Details The mutation was identified in a male CF patient, diagnosed at 2 months of age, presenting with meconium ileus. He is PI, has sweat chloride 130 mmol/l and no pulmonary disease. He carries deltaF508 on the other allele. The mutation was also found in one additional patient with neonatal hypertrypsinemia. (pers. corr. Padoan) 
Reference Seia et al. 1999 

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The Database was last updated at Apr 25, 2011