Mutation Details for c.2707T>C

cDNA Name c.2707T>C 
Protein Name p.Tyr903His 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2839T/C 
Other Details This polymoporhism was detected by DGGE and direct sequencing. It was found on the nromal chromosome of the fahter of a CF patient, and was not detected in 70 normal and 150 CF chromosomes. 
Contributors Balassopoulou A, Hatzipanaiotou N   1995-06-30
Institute Laikon General Hospital Athens 
Submitted Phenotype Details  
Reference Balassopoulou & Hatzipanaiotou (NL#66) 

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The Database was last updated at Apr 25, 2011