Mutation Details for c.3745G>A

cDNA Name c.3745G>A 
Protein Name p.Gly1249Arg 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name G1249R 
Other Details This mucleotide change, G to A at position 3877 in codon 1249, leads to an amino acid change of glycine to arginine. The mutation has been identified by direct sequencing. The patient is of Dutch origin. The mutation was found only once in 200 unrelated CF-patients. 
Contributors Scheffer H, Dijkstra DJ   1993-10-08
Institute null 
Submitted Phenotype Details  
Reference Dijkstra et al. 1994 

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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.

  • Dijkstra DJ, Scheffer H, Buys CH   A novel mutation (G1249R) in exon 20 of the CFTR gene.   1994;4(2):161-2

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The Database was last updated at Apr 25, 2011