Mutation Details for c.3460G>T

cDNA Name c.3460G>T 
Protein Name p.Asp1154Tyr 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name D1154Y 
Other Details This nucleotide change was identified in only one CF Southern Italian patient by DGGE and direct sequencing. 
Contributors Polizzi A., Santostasi T., Diana A., Logrillo VP. Manca A., and Armenio L.   2008-06-04
Institute Dipartimento di Biomedicina dell’Età Evolutiva-Laboratorio Fibrosi Cistica-Azienda Policlinico-Università degli Studi di Bari- Bari-ITALY  
Submitted Phenotype Details The patient was diagnosed at 1 year (male), is pancreatic sufficiency with mild lung disease. The unique clinical manifestation is loss of salts. He has a positive sweat test (Cl- = 74) and carries a G542X mutation on the other CF allele. 

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The Database was last updated at Apr 25, 2011