Mutation Details for c.3713A>G

cDNA Name c.3713A>G 
Protein Name p.Gln1238Arg 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name Q1238R 
Other Details This mutation was identified by DGGE and direct sequencing. The nucleotide change A->G at position 3845 leads to Q1238R in exon 19. This mutation creates a MspI restriction site. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MO, Raguenes O, Guillermit H, Mercier B   1993-08-18
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient diagnosed in utero, carrying deltaF508 on the other allele. (pers. corr. Ferec) 
Reference FĂ©rec C et al. (NL#58) 

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The Database was last updated at Apr 25, 2011