Mutation Details for c.328G>C

cDNA Name c.328G>C 
Protein Name p.Asp110His 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name D110H 
Other Details  
Contributors    1990-01-01
Phenotype Information CFTR2
Reference Dean et al. 1990 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Gimenez FJ, Dognini M, Ravnik-Glavac M, et al   Analysis of 14 cystic fibrosis mutations in five south European populations.   1991 010;87(6):737-8
  • Shrimpton AE, McIntosh I, Brock DJ   The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.   1991 005;28(5):317-21
  • Weller F, Wiebicke W, Tummler B   [Turkish infant with hypoelectrolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H)].   2000 001-002;212(1):41-3

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The Database was last updated at Apr 25, 2011