Mutation Details for c.2248_2255del

cDNA Name c.2248_2255del 
Protein Name p.Pro750GlnfsX26 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2380_2387del 
Other Details Name in accordance with the standard nomenclature guidelines(HGVS): c.2248_2255del or p.Pro750GlnfsX26  
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 seqencing in a newborn presenting positive IRT at birth and heterozygous for the mutation p.Gly542X. The sweat test was positive(100/150 mmol/l). A new polymorphism , 2391C/T was found on the same allele as 2380_2387del.  

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The Database was last updated at Apr 25, 2011