Mutation Details for c.3717+12191C>T

cDNA Name c.3717+12191C>T 
Exon or Intron intron 22 
Legacy Exon or Intron intron 19 
Legacy Name 3849+10kbC->T 
Other Details The mutation was found in a patient with mild cystic fibrosis and normal sweat chloride values. She is the product of a consanguineous mating, is of Pakistani origin, and is homozygous for the B Haplotype. PCR amplification using primers surrounding CFTR bases 3500 to 400 using mRNA from nasal scrape/biopsy gave two products, one of the expected size, and one larger.  
Contributors Highsmith WE, Burch L, Boat TF, Boucher R, Silverman LM, Knowles MR   1991-08-30
Institute University of North Carolina Chapel Hill, NC, USA 
Phenotype Information CFTR2
Reference Highsmith et al. 1994 

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The Database was last updated at Apr 25, 2011