Mutation Details for c.619C>T

cDNA Name c.619C>T 
Protein Name p.Gln207X 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name Q207X 
Other Details This nonsense mutation was detected by SSCP analysis of DNA amplified by PCR using the following primers: 6ai-5s; 5'-GGAAGATACAATGACACCTG-3' and 6ai-3s; 5'-CTGGTTTTACTAAAGTGGGC-3' (271 bp PCR product). This mutation has been found once among 192 CF chromosomes. Mutation on the other chromosome of the pancreatic insufficient patient is 2183AA->G.  
Contributors Zielinski J, Markiewicz D, Tsui LC   1993-10-02
Institute Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details The mutation was found in a PI female CF patient with sweat chloride >80 mmol/l, also carrying 2183AA->G. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#58) 

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The Database was last updated at Apr 25, 2011