Mutation Details for c.1909C>T

cDNA Name c.1909C>T 
Protein Name p.Gln637X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name Q637X 
Other Details The above mutation was discovered by DGGE and identified by direct sequencing. The Q637X mutation has been found once in 130 CF chromosomes from the Portuguese population. The patient carries the deltaF508 on the other chromosome and presented with severe lung disease, PI and positive sweat tests. 
Contributors Pacheco P, Barreto C, Loureiro P, Lavinha J   1999-06-02
Institute Instituto Nacional de Sa├║de Lisboa, Portugal 
Submitted Phenotype Details The mutation was found in a 20 years old male patient diagnosed at 10 months of age carrying deltaF508 on the other allele. He was PI, had severe lung disease, positive sweat chloride, liver disease and diabetes melitus.(pers. corr. Pacheco) 
Reference Pacheco et al. 1999 

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The Database was last updated at Apr 25, 2011