Mutation Details for c.3213G>T

cDNA Name c.3213G>T 
Protein Name p.Gln1071His 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name Q1071H 
Other Details This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in a normal adult female. It creates a restriction site for FokI. 
Contributors Claustres M, Bouchut A, Guittard C   2000-07-19
Institute Institut de Biologie Monpellier 
Submitted Phenotype Details This individual (F) is NOT a CF patient, no other mutation was found. (Pers. corr. Claustres) 
Reference Clasutres et al. 2000 

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The Database was last updated at Apr 25, 2011