Mutation Details for c.1853T>C

cDNA Name c.1853T>C 
Protein Name p.Ile618Thr 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name I618T 
Other Details The I618T mutation was detected in a 3 year old African-American female patient. The other CF allele is the [delta]F508 mutation. ASO hybridization screening did not detect this mutation among 94 non-CF chromosomes of African-American CF parents. The patient presented with reactive airway disease and was subsequently found to have sweat chloride concentration of 60mM. No other clinical information is available to us. 
Contributors Macek MJr, Mackova A, Sedriks SE, Egan ME, Cutting GR   1994-06-01
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details Patient (F) is 3y, has PS, reactive airway disease and sweat-chloride levels of 60mM/l. DeltaF508 was found on the other allele. (Macek, contribution to CFMD; Vankeerberghen et al. 1998) 
Reference Macek et al. (NL#62) 

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The Database was last updated at Apr 25, 2011