Mutation Details for c.2604A>G

cDNA Name c.2604A>G 
Protein Name No Changes 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2736G/A 
Other Details This polymoprhism was observed only once among 60 CF chromosomes and not observed among 55 normal chromosomes. It was characterized through DGGE and direct DNA sequencing. 
Contributors Quere I, Verlingue C, Guillermit H, Audrezet MP, Mercier B, Ferec C   1991-11-13
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found in a French CF PI patient (female, 34y) whose other mutations are R1066C/2789+5. (pers.corr. Ferec) 
Reference Quere et al. (NL#40); Fanen et al. 1992 

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The Database was last updated at Apr 25, 2011