Mutation Details for c.1801A>T

cDNA Name c.1801A>T 
Protein Name p.Ile601Phe 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name I601F 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. I601F was seen only once in over 100 non-[delta]F508 CF chromosomes screened. The patient , who was referred by West Midlands Regional Genetics Service, is heterozygous for the G542X mutation. 
Contributors Schwartz M, Haworth A, Malone G   1996-03-08
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The mutation was identified in a PS patient carrying G542X on the other allele. (pers corr. Schwarz and Vankeerberghen et all 1998) 
Reference Schwarz et al. (NL#68) 

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The Database was last updated at Apr 25, 2011