Mutation Details for c.2750A>G

cDNA Name c.2750A>G 
Protein Name p.Tyr917Cys 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name Y917C 
Other Details This mutation was found by SSCP and sequencing the PCR products and proved by dot blots with oligonucleotides. 
Contributors Edkins E, Creegan R   1993-12-03
Institute Princess Margaret Hospital For Children Perth, Western Australia 
Submitted Phenotype Details  
Reference Edkins & Creegan (NL#60) 

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The Database was last updated at Apr 25, 2011