Mutation Details for c.3139_3139+1delGG

cDNA Name c.3139_3139+1delGG 
Protein Name p.Gly1047GlnfsX28 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3271delGG 
Other Details 3271delGG at the boundary of exon 17a and intron 17a, resulting in both a frame shift for exon 17b and the loss of splice site. This mutation was detected by temporal temperature gel electrophoresis (TTGE) and identified by sequencing. 
Contributors Wang J Wong L-J   1998-12-31
Institute Molecular Diagnostic Laboratory, Institute of Molecular and Human Genetics, Georgetown University Medical Center 
Submitted Phenotype Details One patient (18y old) was diagnosed at 9y6m, PI, FEV1 53% at 17y and sweat chloride 73 mmol/l. The patient has Pseudomonas colonization and abdominal pain.(pers. corr. Wang and Wong et al. 2001) 
Reference Wang 1998 

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The Database was last updated at Apr 25, 2011