Mutation Details for c.3454G>C

cDNA Name c.3454G>C 
Protein Name p.Asp1152His 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name D1152H 
Other Details The family in whom this mutation was identified is of Ashkenazi/Jewish/North European Protestant and is remarkable for advanced age, mild pulmonary disease, pancreatic sufficiency and normal sweat chloride values. The index patient was diagnosed with variant CF at the age of 57 on the basis of clinical phenotype and abnormal nasal epithelial bioelectric parameters. 
Contributors Highsmith WE, Burch L, Friedman KJ, Wood BM, Spock A, Sivlerman LM, Knowles MR   1992-09-18
Institute University of North Carolina Chapel Hill, NC, USA 
Phenotype Information CFTR2
Reference Highsmith et al. (NL#49) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011