Mutation Details for c.2619G>A

cDNA Name c.2619G>A 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2751G->A 
Other Details The above mutation was detected after DGGE and subsequent sequencing with Sequenase 2.0. The nucleotide change was detected once in 200 non-[delta]F508 chromosomes screened by DGGE. The mutation has been inherited from his mother and the second mutation, 457TAT->G is from his father. The male patient was born in April 1992 and the investigators do not have any clinical information. 
Contributors Wagner K, Petek e   1995-01-20
Institute University of Graz, Austria 
Submitted Phenotype Details The CF patient (male) was diagnosed at 9 months of age. He carries 457TAT->G on the other allele. (pers. corr. Wagner) 
Reference Wagner et al. (NL#65) 

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The Database was last updated at Apr 25, 2011