Mutation Details for c.3717+12191C>T
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cDNA Name
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c.3717+12191C>T
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Exon or Intron
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intron 22
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Legacy Exon or Intron
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intron 19
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3849+10kbC->T
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Other Details
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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.
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Contributors
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Highsmith WE,
Burch L,
Boat TF,
Boucher R,
Silverman LM,
Knowles MR
1991-08-30
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Institute
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University of North Carolina
Chapel Hill, NC, USA
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Phenotype Information
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CFTR2
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Reference
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Highsmith et al. 1994
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