Mutation Details for c.743+1G>A

cDNA Name c.743+1G>A 
Exon or Intron intron 6 
Legacy Exon or Intron intron 6a 
Legacy Name 875+1G->A 
Other Details This mutation was detected by DGGE in intron 6 of the CFTR gene. This was followed by direct sequencing in one out of 59 non-[delta]F508 CF chromosomes of Portugese origin. 875+1G->A was found neither in 28 normal chromosomes nor in 31 [delta]F508 CF chromosomes. The patient, a 14 year old girl who is a compound heterozygote for 875+1G->A and [delta]F508, was diagnosed at the age of 9. Symptoms include severe pancreatic insufficiency, growth retardation and pulmonary disease with Pseudomonas aeruginosa colonization since the age of 13.  
Contributors Duarte A, Barreto C, Lavinha J   1994-06-25
Institute Instituto Nacional de Saude 
Submitted Phenotype Details The mutation was found in a 21 years old female, diagnosed at 9 years of age with typical CF. She is PS, has sweat chloride 108 mmol/l and FEV1 22.2%. She carries deltaF508 on the other allele. (pers. corr.Duarte) 
Reference Duarte et al. (NL#63) 

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The Database was last updated at Apr 25, 2011