Mutation Details for c.2909G>A

cDNA Name c.2909G>A 
Protein Name p.Gly970Asp 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name G970D 
Other Details The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is an 8 nt deletion in exon 4. 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 451del8 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