Mutation Details for c.2259C>T

cDNA Name c.2259C>T 
Protein Name No Changes 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2391 C/T 
Other Details Name in accordance with the standard nomenclature guidelines(HGVS): c.2259C>T or p.Ser753Ser  
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 a CF newborn who was compound heterozygous for p.Gly542X and 2380_2387del. This polymorphism was found on the same allele as 2380_2387del.  

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The Database was last updated at Apr 25, 2011