Mutation Details for c.1116+1G>A
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cDNA Name
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c.1116+1G>A
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Exon or Intron
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intron 8
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Legacy Exon or Intron
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intron 7
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1248+1G->A
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Other Details
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This mutation was detected by direct DNA sequencing of exon 7 PCR products and is a single base substitution from a guanine to an adenine at position 1248+1 of the CFTR gene. This same base change has previously been seen to disrupt splicing of other exons.
The mutation has been confirmed by sequencing the region between primer 7i5 and 7i3 in both directions, and has also been shown to be present in the relevant parent of the CF patient, who is a compound heterozygote of [delta]I507 and 1248+1(G->A). The patient, who is 14 years of age, is pancreatic insufficient and has had Pseudomonas infections since the age of three.
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Contributors
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Schwarz M,
Malone G,
Haworth A
1993-08-25
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Institute
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Royal Manchester Children's Hospital
Pendlebury UK
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Phenotype Information
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CFTR2
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Reference
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Schwarz et al. (NL#58)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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