Mutation Details for c.4C>T

cDNA Name c.4C>T 
Protein Name p.Gln2X 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name Q2X (together with R3W) 
Other Details This mutation was detected by DGGE and direct sequencing. As samples were not available, we didn't perform a family study. Thus we cannot indicate if those two nucleotidic variations were localised on the same chromosome or not. We will perform the family study as soon as possible and will inform you on the results. 
Contributors Ferec C, Quere I, Verlingue C, Mercier B, Kalaydjieva L, Savov A   1993-06-29
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found together with R3W in a 14 years old male patient diagnosed at 9 months, also carrying N1303K on the other allele; he is PI, has no pulmonary symptoms and sweat chloride 95 mEq/l. (pers. corr. Savov)  
Reference Savov et al. 1994a 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Bambagiotti-Alberti M, Coran S, Giannellini V, Favretto D, Traldi P   Characterization of hematology lysing reagents containing quaternary ammonium halides using fast-atom bombardment mass spectrometry.   1994 006;8(6):439-42

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The Database was last updated at Apr 25, 2011