Mutation Details for c.579+1G>T
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cDNA Name
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c.579+1G>T
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Exon or Intron
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intron 5
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Legacy Exon or Intron
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intron 5
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711+1G->T
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Other Details
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The mutation was found on the mother's CF chromosome in familt #22, a French Canadian family from Chicoutimi. The other mutation in this family is 621+1G->T. We checked 54 CF chromosomes and 49 N chromosomes but did not see another example. To detect this mutation, genomic DNA may be amplified by PCR with primers 5i5' and 5i3' and hybridized with ASOs.
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Contributors
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Zielenski J,
Bozon D,
Kerem B,
Tsui LC
1990-06-18
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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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