Mutation Details for c.490-2A>G

cDNA Name c.490-2A>G 
Exon or Intron intron 4 
Legacy Exon or Intron intron 4 
Legacy Name 622-2A->G 
Other Details This splice mutation in intron 4 was identified by DGGE analysis. The 622- 2A-G mutation was found in one argentinean patient, who carries the F508del mutation on the other allele. It was not found on 78 non-F508del CF chromosomes. 
Contributors Oller Ramirez A, Gimenez J, Ramos MD, Ghio A, Dodelson de Kremer R, Casals T   2004-05-11
Institute Center for the Study of the Inherited Metabolic Disease, CEMECO, Medical Sciences Faculty, National University of Cordoba, Children's Hospital, Argentina and CGMM-IRO, Barcelona, Spain. 
Submitted Phenotype Details The patient was detected for newborn screening and confirmed by sweat chloride. He is 3 years old, pancreatic insufficiency, mild lung involvement and he has not had lung colonization. 

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The Database was last updated at Apr 25, 2011