Mutation Details for c.1679+18G>A
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cDNA Name
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c.1679+18G>A
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Exon or Intron
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intron 12
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Legacy Exon or Intron
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intron 11
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1811+18G->A
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Other Details
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The above mutation was detected once among 60 unrelated Belgian CF chromosomes. This mutation creates a new potential splice acceptor site, but it has not been proven at the mRNA level at the moment.
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Contributors
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Teng H,
Cuppens H,
Cassiman J
1994-12-20
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Institute
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University of Leuven,
Belgium
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Submitted Phenotype Details
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The mutation was identified in a patient with atypical CF. No second mutation was found, except for 125G->C. (pers. corr. De Boeck)
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Reference
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Teng et al. (NL#65)
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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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