Mutation Details for c.3874-61_3874-48del
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cDNA Name
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c.3874-61_3874-48del
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Exon or Intron
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intron 23
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Legacy Exon or Intron
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intron 20
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4006-61del14
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Other Details
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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.
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Contributors
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Friedman K,
Wood B,
Burch L,
Heim R,
Silverman L
1993-03-11
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Institute
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University of North Carolina
Chapel Hill, NC, USA
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Submitted Phenotype Details
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Reference
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Friedman et al. (NL#59)
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