Mutation Details for c.4168C>T

cDNA Name c.4168C>T 
Protein Name p.Gln1390X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name Q1390X 
Other Details Name in accordance with the standard nomenclature guidelines(HGVS): c.4168C>T or p.Gln1390X 
Contributors Claustres M, Guittard C, Altieri JP, Templin C, des Georges M.   2008-01-28
Institute Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France 
Submitted Phenotype Details This mutation was identified by sequencing in newborn presenting positive IRT at birth, no common mutation(Elucigene kit CF30 /Tepnel) and positive sweat test (111/114mmol/l). The baby is homozygous for this nonsense mutation, his parents are consanguineous and originating from Turkey. 

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The Database was last updated at Apr 25, 2011