Mutation Details for c.165-27_65-28insA

cDNA Name c.165-27_65-28insA 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-28insA 
Other Details This nucleotide with an insertion in intron 2 of the CFTR gene was identified by direct sequencing of exon 3. This mutation may affect splicing by aberrant lariat forming of pre-mRNA. Alternatively this insertion is just a rare (neutral) variant. CFTR-,RNA of this patient will be studied subsequently. This insertion creates an additional MseI restriction site in the exon 3 PCR product and has not been found in 50 unrelated normal individuals. The patient is of Dutch origin and another CFTR mutation has nto yet been identified. 
Contributors Scheffer H, Dijkstra D-J   1993-11-29
Submitted Phenotype Details  
Reference Scheffer & Dijkstra (NL#60) 

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The Database was last updated at Apr 25, 2011