Mutation Details for c.1119T>G

cDNA Name c.1119T>G 
Protein Name p.Asp373Glu 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name D373E 
Other Details We have scanned the entire coding sequences of the CF gene with DGGE and have seen it only once, in over 1000 control chromosomes from Italian population. 
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-18
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details The mutation was identified in suspect CF North-East Italian patient (male 6y). The patient had neonatal hypertrypsinemia and negative sweat test. He carries I148T on the same and deltaF508 on the other allele. 

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The Database was last updated at Apr 25, 2011