Mutation Details for c.2502delT

cDNA Name c.2502delT 
Protein Name p.Phe834LeufsX10 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2634delT 
Other Details Name in accordance with the standard nomenclature guidelines (HGVS): c.2502delT or p.Phe834LeuX9 
Contributors Claustres M, Altieri JP, Templin C, Guittard C, des Georges M.   2007-04-12
Institute Laboratoire de Genetique Moleculaire. IURC. CHU del Montpellier. France 
Submitted Phenotype Details This mutation was identified by DGGE and sequencing in a newborn presenting positive IRT at birth and heterozygous for one common mutation(p.Trp1282X). The swaet test was positive. 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011