Mutation Details for c.2502_2503insT

cDNA Name c.2502_2503insT 
Protein Name p.Asp835X 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2634insT 
Other Details This mutation was found by DGGE and identified by DNA sequencing in a patient from Southern France. It does not modify any restriction site. 
Contributors Claustres M, Guittard C, Des George M, Carles S   1998-01-06
Institute Institut de Biologie, Montpellier, France 
Submitted Phenotype Details The mutation was found in 2 patients: -a 41 years old male CF patient, diagnosed with CBAVD, who has severe lung disease and sweat chloride of 130 mmol/l. He carries deltaF508 on the other allele. -a 2 years old female PS, with severe pulmonary symptoms and carrting R553X on the other allele.(pers. corr. Claustres) 
Reference Claustres et al. (NL#70) 

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The Database was last updated at Apr 25, 2011