Mutation Details for c.1477_1478delCA

cDNA Name c.1477_1478delCA 
Protein Name p.Gln493ValfsX10 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1609delCA 
Other Details This mutation was found in an Algerian individual who was homozygous for this mutation. This CF patient was also homozygous for the M470V polymorphism (A to G at 1540) which islocalized in exon 10. The 1609delCA mutation was not found in 268 random Algerian chromosomes.  
Contributors Cuppens H, Loumi O, Marynan P, Cassiman JJ   1991-12-11
Institute Center for Human Genetics Leuven, Belgium 
Submitted Phenotype Details The mutation was found in a homozygous patient. No additional clinical information available. 
Reference Cuppens et al. 1992; Chill√≥n et al. 1992a 

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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.

  • Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.   1996 003;16(3):215-22
  • Chillon M, Palacio A, Nunes V, Casals T, Gimenez J, Estivill X   Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.   1992;1(1):75-6
  • Estivill X, Bancells C, Ramos C   Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.   1997;10(2):135-54
  • Loumi O, Cuppens H, Bakour R, Benabadji M, Baghriche M, Marynen P, Cassiman JJ   An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms.   1992;3(4):205-7
  • 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