Mutation Details for c.2810_2811insT

cDNA Name c.2810_2811insT 
Protein Name p.Val938GlyfsX37 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2942insT 
Other Details This mutation was detected by TTGE and DNA sequencing. It was found in a patient of Caucasian origin with [delta]F508 on the other allele. 
Contributors Zhang YH, Wong LJ   1999-12-06
Institute Institute for Molecular and Human Genetics Georgetown University Medical Center, Washington DC, USA 
Submitted Phenotype Details The mutation was identified in a female patient (32y at the time of test) diagnosed at 29 years of age, also carrying deltaF508. Pulmonary function tests are not available. She also has hypothiroidism. (pers corr. Alper) 
Reference Zhang & Wong 1999 

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The Database was last updated at Apr 25, 2011