Mutation Details for c.592G>C

cDNA Name c.592G>C 
Protein Name p.Ala198Pro 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name A198P 
Other Details The mutation was detected in a Chinese CBAVD patient by multiplex heteroduplex analysis on the MDE gel matrix. The heterozygous patient had no other detectable CF mutations. Clinical: CBAVD 
Contributors Walker C, Tsui L-C, Zielenski J   1999-12-09
Institute Hospital for Sick Children Toronto, Canada 
Submitted Phenotype Details  
Reference Walker et al. 1999 

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The Database was last updated at Apr 25, 2011