Mutation Details for c.1860T>G

cDNA Name c.1860T>G 
Protein Name p.His620Gln 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name H620Q 
Other Details The H620Q mutation was identified in a German patient with mild CF and who is heterozygous for this mutation and [delta]F508. 
Contributors Dörk T, Stuhrmann M   1996-04-29
Institute Medizinische Hochschule, Hannover, Germany 
Submitted Phenotype Details The CF patient (male, 15y) was diagnosed at 12y6m,is PI, has recurrent respiratory infections and sweat chloride >100mmol/l. (pers corr Doerk and Vankeerberghen et al. 1998) 
Reference Dörk and Sturhmann (NL#68) 

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The Database was last updated at Apr 25, 2011