Mutation Details for c.2290C>T

cDNA Name c.2290C>T 
Protein Name p.Arg764X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R764X 
Other Details The above was deleted in a 32-year old African-American female CF patient whose other mutation was [delta]F508. She was diagnosed at age 11 with repeated respiratory symptoms but remained pancreatic sufficient thus far. 
Contributors Macek M Jr, Egan M E, Mackova A, Cutting G R   1995-04-24
Institute John Hopkins Medical Institutions 
Phenotype Information CFTR2
Reference Macek et al. (NL#66) 

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The Database was last updated at Apr 25, 2011