Mutation Details for c.2909-1G>A

cDNA Name c.2909-1G>A 
Exon or Intron intron 17 
Legacy Exon or Intron intron 15 
Legacy Name 3041-1G->A 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was found in a 4-year old female CF patient whose other mutation is [delta]F508. 3041-1G->A was seen only once in 80 non-[delta]F508 chromosome screened. 
Contributors Malone G, Hawworth A, Schwarz M   1995-08-03
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient (female, born in March 1991) was diagnosed with CF. She had meconium ileus. She carries DelF508 on the other allele. (pers. corr. Malone)  
Reference Malone et al (NL#67) 

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The Database was last updated at Apr 25, 2011