Mutation Details for c.3530delA

cDNA Name c.3530delA 
Protein Name p.Lys1177SerfsX15 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3662delA 
Other Details The A nucleotide at position 3662 is deleted on one CF chromosome from an American black patient. This creates an in-frame stop codon 14 codons downstream. This mutation was observed in one of 32 American black and 32 Caucasian CF chromosomes examined. The mutation on this patient's other CF chromosome is unknown and this mutation was detected by direct sequencing. 
Contributors Cutting GR, Curristin S   1990-08-07
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Cutting et al. 1992 

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The Database was last updated at Apr 25, 2011