Mutation Details for c.3367G>C

cDNA Name c.3367G>C 
Protein Name p.Gly1123Arg 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name G1123R 
Other Details This missense mutation in exon 17B of the CFTR gene was detected by SSCP/heteroduplex analysis followed by direct sequencing. G1123R may also affect splicing since the final base of an exon tends to be a G residue. We have observed this mutation only once in an English patient. We have also observed the 1461ins4 mutation, furst reported by Zielinski et al. (NL #52), in two unrelated English CF patients. This mutation may be worth screening for an uncharacterized CF chromosomes from the UK. 
Contributors Wallace A, Tassabehji M   1993-11-24
Institute St. Mary's Hospital Manchester, UK 
Submitted Phenotype Details  
Reference Wallace & Tassabehji (NL#60) 

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The Database was last updated at Apr 25, 2011