Mutation Details for c.1373delG

cDNA Name c.1373delG 
Protein Name p.Gly458AspfsX11 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1504delG 
Other Details The 1504 delG mutation was detected in a 6 year old African-American female CF patient. The other allele is the 3791delC mutation. The patient was diagnosed at the age of one and a half year with sweat chloride concentration of 130 mM. No other clinical information is available to us. 
Contributors Mackova A, Macek MJr, Cutting GR   1994-08-10
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Mackova et al. (NL#63) 

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The Database was last updated at Apr 25, 2011