Mutation Details for c.3874-61_3874-48del

cDNA Name c.3874-61_3874-48del 
Exon or Intron intron 23 
Legacy Exon or Intron intron 20 
Legacy Name 4006-61del14 
Other Details A healthy caucasian male was determined to be heterozygous for a deletion of 14 nucleotides that spans the region 4006-61 to 4006-47 in intron 20. The missing sequence, GGAAAAATAAAAAG, appears to lie upstream of the consensus branch site. Whereas it might not be exoected to have an impact on splicing of exon 21, evaluation of the CFTR transcript will be required. These studies are under way. This sequence variation was not seen in 740 other individuals, 390 with CF, 350 without. 
Contributors Friedman K, Wood B, Burch L, Heim R, Silverman L   1993-03-11
Institute University of North Carolina Chapel Hill, NC, USA 
Submitted Phenotype Details  
Reference Friedman et al. (NL#59) 

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The Database was last updated at Apr 25, 2011