Mutation Details for c.319_326delGCTTCCTA

cDNA Name c.319_326delGCTTCCTA 
Protein Name p.Ala107X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 451del8 
Other Details The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is G970Y. Further patient information will be reported. <BR> (Corrected August 4, 1997) 
Contributors Vassilakis A, Hurlock G, Wagner J, Moss R, Wine J J   1997-04-13
Institute Stanford University 
Submitted Phenotype Details The 23 year-old chinese female CF patient is PS, has moderate lung disease (FEV1 60%) and sweat chloride 104 mmol/l. She carries G970D on the other allele.(pers. corr. Wine and Wagner J. et al 1999)  
Reference Vassilakis et al. (NL#69) 

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The Database was last updated at Apr 25, 2011