Mutation Details for c.3841C>T

cDNA Name c.3841C>T 
Protein Name p.Gln1281X 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name Q1281X 
Other Details The above mutation, Q1281X, was detected by DGGE and direct sequencing. The CF patient is a 10-year old girl who carries [delta]F508 on the maternal allele. She presents severe lung disease and pancreatic insufficiency. 
Contributors Casals T, Ramos M D, Gimenez J, Nunes V, Estivill X   1996-01-25
Institute IRO, Spain 
Submitted Phenotype Details The mutation was found in a 11 years old female CF patient diagnosed at 2 months of age, PI, FEV1 47%, PA colonization and bronchiectasis, sweat chloride 110 mmol/l. DeltaF508 was found on the other allele. (pers. corr. Casals and Casals et al. 1997) 
Reference Casals et al. (NL#68) 

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The Database was last updated at Apr 25, 2011