Mutation Details for c.4364C>G

cDNA Name c.4364C>G 
Protein Name p.Ser1455X 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name S1455X 
Other Details The S1455X mutation was detected in Iranian CF patient with an atypical phenotype. This mutation is compounded with another yet unidentified CF allele.  
Contributors Macek MJr, Mackova A, Sedriks SE, Cutting GR   1994-03-21
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details Two patients, both females, 9 and 46 years old, both PS, FEV1 above 90% and sweat chloride 70-85 mmol/l. Both have del14a on the other allele. (pers. corr. Macek) 
Reference Macek M Jr et al. (NL#61) 

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The Database was last updated at Apr 25, 2011