Mutation Details for c.579+1G>T

cDNA Name c.579+1G>T 
Exon or Intron intron 5 
Legacy Exon or Intron intron 5 
Legacy Name 711+1G->T 
Other Details 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. 
Contributors Zielenski J, Bozon D, Kerem B, Tsui LC   1990-06-18
Institute The Hospital For Sick Children Toronto, ON , Canada 
Phenotype Information CFTR2
Reference Zielenski et al. 1991b 

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The Database was last updated at Apr 25, 2011