Mutation Details for c.3546C>G

cDNA Name c.3546C>G 
Protein Name p.Tyr1182X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name Y1182X 
Other Details A nonsense mutation was found in exon 19 of CFTR. Y1182X creates a novel MbolI restriction site in exon 19. Y1182X was detected by SSCP/heteroduplex analysis and was observed once in CF patient referred for rare mutation analysis from the Yorshire Regional DNA Laboratory in Leeds. 
Contributors Wallace A, Tassabehji M   1994-09-27
Institute St. Mary's Hospital Manchester, UK  
Submitted Phenotype Details  
Reference Wallace & Tassabehji (NL#64) 

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The Database was last updated at Apr 25, 2011