Mutation Details for c.2658-1G>C

cDNA Name c.2658-1G>C 
Exon or Intron intron 16 
Legacy Exon or Intron intron 14b 
Legacy Name 2790-1G->C 
Other Details This mutation was found in two unrelated patients of Danish origin 
Contributors Schwartz M, Palle AL, Vedel G, Larsen    1993-03-01
Institute Section of Clinical Genetics Copenhagen, Denmar 
Submitted Phenotype Details  
Reference Schwartz et al. (NL#54) 

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The Database was last updated at Apr 25, 2011