Mutation Details for c.165-2A>G

cDNA Name c.165-2A>G 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-2A->G 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. 297-2A->G was found in a male CF patient (referred by Dr. J. Harvey of Salisbury, England) whose other mutation is [delta]F508. 297-2A->G was seen only once in over 100 non-[delta]F508 CF chromosomes screened. 
Contributors Schwarz M, Hawworth A, Malone G   1995-09-04
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The CF patient carries delF508 on the other allele. (pers.corr. Schwarz) 
Reference Schwarz et al (NL#67) 

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The Database was last updated at Apr 25, 2011