Mutation Details for c.490-1G>A

cDNA Name c.490-1G>A 
Exon or Intron intron 4 
Legacy Exon or Intron intron 4 
Legacy Name 622-1G->A 
Other Details This mutation was detected by heteroduplex and DGGE analysis. It was found in 2 polish CF patients. The first patient was diagnosed with PI, moderate lung disease, sweat chloride of 90.7-141.2 mEq/I, and with second mutation being 2143delT. The second patient was also with PI, moderate to severe lung disease, sweat chloride of 76-108 and with unknown second mutation. 
Contributors Zielenski J, Markiewicz D, Tsui LC Casals T, Ramos MD, Estivill X, Bal J, Mazurczak T   1995-04-28
Institute The Hospital for Sick Children Toronto, ON, Canada 
Submitted Phenotype Details The mutation was identified in a CF patient carrying 2143delT on the other allele. The patient is PI, has moderate lung disease and sweat chloride if 141 mmol/l. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#66) 

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The Database was last updated at Apr 25, 2011