Mutation Details for c.3659delC

cDNA Name c.3659delC 
Protein Name p.Thr1220LysfsX8 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3791delC 
Other Details The 3791delC mutation was detected on 1 African-American chromosome out of 50 Cf chromosome screened. The patient carries another yet unidentified CF allele on the other chromosome. Clinical information is not available. 
Contributors Macek MJr, hamosh A, Davis CL, Cutting GR   1993-05-18
Institute Center for Medical Genetics Baltimore, MD, USA 
Phenotype Information CFTR2
Reference Macek et al. (NL#55) 

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The Database was last updated at Apr 25, 2011