Mutation Details for c.3017C>A

cDNA Name c.3017C>A 
Protein Name p.Ala1006Glu 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name A1006E 
Other Details This mutation was identified on one Italian CF chromosome. 
Contributors Ferec C, Quere I, Audrezet MP, Mercier B, Novelli G, Sanguiolo F, Dallapiccola B   1994-07-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details No clinical info available. 
Reference Férec et al. 1995 

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

  • Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B   Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.   1995 004;9(2):135-7




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