Mutation Details for c.3535_3538delACCA

cDNA Name c.3535_3538delACCA 
Protein Name p.Thr1179AsnfsX12 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3667del4 
Other Details This mutation's change, found in exon 19 of the CFTR gene, is a four base-pair deletion starting at nucleotide 3667 or 3668. This mutation has been detected by SSCP analysis, followed by diret sequencing. Mutation 3667del4 was found in 1 out of 377 unrelated Spanish CF non-[delta]F508 chromosomes. The mutation on the other chromosome is [delta]F508. 
Contributors Chillon M, Nunes V, Casals T, Estivill X   1992-04-16
Institute Institut de Recerca Oncologica  
Submitted Phenotype Details The mutation was found in a 21 months old male patient diagnosed at 6 months who is PI, has sweat chloride greater than 100 mmol/l and carries deltaF508 on the other allele. (pers. corr. Casals) 
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   Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).   1994;3(3):223-30
  • Morral N, Nunes V, Casals T, Chillon M, Gimenez J, Bertranpetit J, Estivill X   Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.   1993 007;2(7):1015-22

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The Database was last updated at Apr 25, 2011