Mutation Details for c.3600A>G

cDNA Name c.3600A>G 
Protein Name p.Asp1201MetfsX10 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3732delA 
Other Details This mutation was found together with K1220E on the same non-[delta]F508 CF chromosome. 
Contributors Goossens M, Fanen P, Ghanem N, Vidaud M   1990-08-21
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details The 3732delA mutation was found in a 18y male diagnosed at 1y of age, also carrying 1717-1G>A on the other allele.He is PI, has moderate lung disease and positive(borderline)sweat chloride. 3732delA was in cis with 3791C/T (K1220E). (pers. corr. Girodon)  
Reference Fanen et al. 1992 

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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.

  • Ivaschenko TE, Baranov VS, Dean M   Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.   1993 003;91(1):63-5
  • Kere J, Estivill X, Chillon M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A   Cystic fibrosis in a low-incidence population: two major mutations in Finland.   1994 002;93(2):162-6
  • Petrova NV, Kapranov NI, Ginter EK   [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].   1997 001;33(1):106-9

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The Database was last updated at Apr 25, 2011