Mutation Details for c.3367+37G>A
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cDNA Name
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c.3367+37G>A
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Exon or Intron
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intron 20
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Legacy Exon or Intron
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intron 17b
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3499+37G/A
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Other Details
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This polymoprhism is caused by a substitution of a A to an A at nucleotide position 3499+37:3499+37G->A. This polymoporphism has been detected once among 58 unrelated Belgian CF chromosomes.
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Contributors
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Cuppens H,
Marynen P,
Cassiman JJ
1992-05-11
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Institute
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University of Leuven
Leuven, Belgium
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Submitted Phenotype Details
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The mutation was found in a PS individual also carrying the P1290P polymorphism. Most likely this is not a CF patient, but since there is no follow up of this patient it is not clear if she has a CFTR-related disease. (pers. corr. Cuppens)
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Reference
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Cuppens et al. (NL#45)
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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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