Mutation Details for c.988G>T

cDNA Name c.988G>T 
Protein Name p.Gly330X 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name G330X 
Other Details The G330X nonsense mutation was detected in only one African American CF chromosome of 50 screened. The patient carries R553X on the other allele. He is a 20 year old male with severe pancreatic disease (meconium ileus at birth and diabetes now) and mild to moderate lung disease. 
Contributors Hamosh A, Kiesewetter S, Macek MJr, Davis C, Cutting GR   1993-03-17
Institute Johsn Hopkins Hopsital Baltimore, MD, USA 
Phenotype Information CFTR2
Reference Hamosh et al. (NL#54) 

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The Database was last updated at Apr 25, 2011