Mutation Details for c.805_806delAT

cDNA Name c.805_806delAT 
Protein Name p.Ile269ProfsX4 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name 936delTA 
Other Details This mutation was detected by SSCP analysis, followed by direct sequencing. We have found a homozygous CF patient with 936delTA mutation (2/48 non-[delta]F508 CF chromosomes). 
Contributors Chillon M, Gimenez J, Casals T, Nunes V, Estivill X   1993-02-05
Institute Institut de Recerca Oncologica Barcelona, Spain 
Submitted Phenotype Details The mutation was identified in 2 patient: - one is homozygous, male, 7 years old, diagnosed at 1 month of age, sweat chloride 120 mmol/l and chronic lung colonization; - one carries deltaF508 on the other allele, female, 11y, diagnosed at 19 months of age, PI, FEV1 60% with chronic lung colonization and sweat chloride 110 mmol/l.(Chillon et al. 1994) 
Reference Chill√≥n et al. 1994 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Chillon M, Casals T, Gimenez J, Nunes V, Estivill X   A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.   1994 005;31(5):369-70

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The Database was last updated at Apr 25, 2011