Mutation Details for c.1067G>C

cDNA Name c.1067G>C 
Protein Name p.Trp356Ser 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name W356S  
Other Details  
Contributors Barbolina I, H Shaw, J Hinks, G Malone, Inglis E, Schwarz MJ.   2004-06-16
Institute Royal Manchester Childrens Hospital 
Submitted Phenotype Details 1 year-old Pakistani boy with persistent chest infections. Pre-term baby with delayed functioning of bowels. Heterozygous for this mutation: no other mutation found. 

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The Database was last updated at Apr 25, 2011