Mutation Details for c.2735C>A

cDNA Name c.2735C>A 
Protein Name p.Ser912X 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name S912X 
Other Details This mutation was identified by direct sequencing and DGGE. 
Contributors Leoni GB, Rosatelli MC, Saba L, Meloni , Cao A   1993-01-03
Institute Istituto di Clinica e Biologia dell'eta Evolutiva U Cagliari, Italy 
Submitted Phenotype Details The mutation was found in a 15 year old male patient diagnosed at 7 years of age, carrying 2183AA->G on the other allele.He is PI, has severe pulmonary symptoms and high sweat chloride. (pers corr. Rosatelli) 
Reference Leoni et al (NL #54 

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The Database was last updated at Apr 25, 2011