Mutation Details for c.4144C>T

cDNA Name c.4144C>T 
Protein Name p.Gln1382X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name Q1382X 
Other Details This mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The other CF allele carries [delta]F508. The patient was diagnosed at 9 years of age with a positive sweat test (Cl 100 mmol/l). 
Contributors Claustres M, Carles S   1998-05-26
Institute Institut de Biologie, Montpellier 
Submitted Phenotype Details The 17 years old female patient was diagnosed at 9 years of age, is PI, has moderate pulmonary symptoms and sweat chloride 100 mmol/l. She carries deltaF508 on the other allele. (pers. corr. Claustres) 
Reference Claustres & Carles (NL#70) 

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The Database was last updated at Apr 25, 2011