Mutation Details for c.489+2T>C

cDNA Name c.489+2T>C 
Exon or Intron intron 4 
Legacy Exon or Intron intron 4 
Legacy Name 621+2T->C 
Other Details The above mutation was detected by SSCP and identified by direct DNA sequencing. 621+2T->C was found in a Pakistani CF patient from the North-West of England; the patient is homozygous for this mutation from a consanguineous partnership; the mutation was found only once (although in homozygous form) in 20 Pakistani CF chromosomes. 
Contributors Schwarz M, Malone G, Hawworth A   1995-07-06
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details 2 patients: -one carrying DelF508 on the other allele, female, born in October 1997 -one homozygous. (pers. corr. Schwarz) 
Reference Schwarz et al. (NL#66) 

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The Database was last updated at Apr 25, 2011