Mutation Details for c.3291delC

cDNA Name c.3291delC 
Protein Name p.Trp1098GlyfsX4 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3423delC 
Other Details  
Contributors Kay E, Malone G, Haworth A, Schwarz M, Robertson E   1995-02-15
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient, male, carries W1282X on the other allele. (pers. corr. Schwarz) 
Reference Kay et al. (NL#65) 

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The Database was last updated at Apr 25, 2011