Mutation Details for c.3872A>G

cDNA Name c.3872A>G 
Protein Name p.Gln1291Arg 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name Q1291R 
Other Details Q1291R, an A->G substitution at nucleotide position 4004 in exon 20 has a haplotype of 2-2-1 (KM19-D9-J44) with seven GATT repeats. The mutation creates a new BsaJI site. 
Contributors Dork T, Kalin N, Tummler B   1992-04-13
Institute Medizinische Hochshule Hannover 
Submitted Phenotype Details The male CF patient is PI and carries DeltaF508 on the other allele. (pers. corr. Doerk) 
Reference Dörk et al. 1994b 

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The Database was last updated at Apr 25, 2011