Mutation Details for c.3611G>A

cDNA Name c.3611G>A 
Protein Name p.Trp1204X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name W1204X(3743G->A) 
Other Details This mutation is associated with haplotype B and creates a MaeI site. This patient is a compounded heterozygot and carry [delta]F508 on the other chromosome. We found this mutation once among 100 non-[delta]F508 CF chromosome. 
Contributors Goossens M Costes B, Fanen P   1991-12-13
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details W1204X was found in a 13y female diagnosed at 4m, who is PI, has positive sweat chloride and carries deltaF508 on the other allele. (pers. corr. Girodon)  
Reference Costes et al., 1993; Ghanem 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.

  • Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M   Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1994 005 15;21(2):434-6

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The Database was last updated at Apr 25, 2011