Mutation Details for c.1859A>C

cDNA Name c.1859A>C 
Protein Name p.His620Pro 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name H620P 
Other Details The above mutation was detected by SSCP and identified by direct DNA sequencing. H620P was found in a 15-year old male CF patient who has mild CF and who is pancreatic sufficient. His parents were unavailable for testing but one is Caucasian and the other is Asian. His mother's mutation is R1158X, which this investigators have seen in one Arabic and one Greek patient. H620P was seen only once in 100 non-[delta]F508 chromosomes screened. 
Contributors Hawworth A, Malone G, Schwarz M   1995-07-10
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The mutation was found in a 15 years old male CF patient, with mild CF (is PS). The father is Pakistani. (pers. corr. Schwarz) 
Reference Haworth et al. (NL#66) 

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The Database was last updated at Apr 25, 2011