Mutation Details for c.829T>A

cDNA Name c.829T>A 
Protein Name p.Trp277Arg 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name W277R 
Other Details This mutation, in exon 6b, was detected by SSCA analysis and identified by direct sequencing. The W277R (A>G at 961) 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, Ramos MD, Gimenez J, 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 female patient was diagnosed at 11 months old, is PI and has mild pulmonary disease. She is 4 years old and she has not had lung colonization episodes. 

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The Database was last updated at Apr 25, 2011