Mutation Details for c.489+1G>T
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cDNA Name
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c.489+1G>T
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Exon or Intron
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intron 4
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Legacy Exon or Intron
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intron 4
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621+1G->T
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Other Details
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This mutation was detected in 5 French-Canadian CF chromosomes but not in 33 other CF chromosomes and 29 N chromosomes. The mutation creates a Mse I site.
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Contributors
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Kerem B,
Zielenski J,
Bozon D,
Tsui LC
1990-05-04
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Institute
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The Hospital for Sick Children
Toronto, ON, Canada
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Phenotype Information
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CFTR2
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Reference
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Zielenski et al. 1991b
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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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