Mutation Details for c.2074G>T

cDNA Name c.2074G>T 
Protein Name p.Glu692X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E692X 
Other Details A new mutation was detected by SSCA in exon 13 and identified by direct sequencing. The change is a G to T substitution at nucleotide 2206 which causes a stop codon at position 692 instead of glutamic acid (E692X). This mutation was found in one Spanish child with [delta]F508 on the other chromosom 
Contributors Casals T, Gimenez J, Ramos MD, Nunes V, Estivill   1994-11-07
Institute Insititut de Recerca Oncologica 
Submitted Phenotype Details The mutation was described associated with severe CF phenotype in Spanish patients. Clinical details in a 16 years old male patient diagnosed at 9 years of age are: PI, FEV1 88% and sweat chloride over 100 mmol/l. He carries deltaF508 on the other allele. (Casals et al. 1997 and pers. corr. Casals) 
Reference Casals et al. (NL#64) 

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The Database was last updated at Apr 25, 2011