Mutation Details for c.2988+45A>G

cDNA Name c.2988+45A>G 
Exon or Intron intron 18 
Legacy Exon or Intron intron 16 
Legacy Name 3120+45A/G 
Other Details The mutation was also identified by Ferec et al. (pers. corr. Ferec 2002) 
Contributors Andrew N, Malone G, Brownsell E, Schwarz M   2000-10-19
Institute Royal Manchester Children's Hospital England 
Submitted Phenotype Details The mutation was also found by Ferec et al, pers. corr. Ferec 2002. No additional clinical information available. 
Reference Andrew et al. 2000 

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The Database was last updated at Apr 25, 2011