Mutation Details for c.2749T>G

cDNA Name c.2749T>G 
Protein Name p.Tyr917Asp 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name Y917D 
Other Details The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy (deceased) whose other CF mutation was [delta]F508. We have seen it only once in 120 samples tested.  
Contributors Schwarz M, Malone G, Haworth A   1996-06-10
Institute Royal Manchester Children's Hospital, England. 
Submitted Phenotype Details The patient (male, deceased), was born in November 1968. He carried DelF508 on the other allele. (pers. corr. Schwarz) 
Reference Schwarz et al. (NL#69) 

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The Database was last updated at Apr 25, 2011