Mutation Details for c.531delT

cDNA Name c.531delT 
Protein Name p.Ile177MetfsX12 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name 663delT 
Other Details The mutation was detected by TTGE (Temporal Temperature Gel Electrophoresis) and identified by direct sequencing. 
Contributors Wang J, Wong L-J   1998-11-12
Institute Molecular Diagnostic Laboratory, Institute of Molecular and Human Genetics, Georgetown University Medical Center 
Phenotype Information CFTR2
Reference Wang et al. 1998 

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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.

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The Database was last updated at Apr 25, 2011