Mutation Details for c.3160C>G

cDNA Name c.3160C>G 
Protein Name p.His1054Asp 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name H1054D 
Other Details A nucleotide change, A->G at position 3293 was detected in exon 17b leading to H1045R The patient is 45 years old. The other chromosome carries the [delta]F508 mutation. 
Contributors Ferec C, Quere I, Verlingue C, Mercier B, Audrezet MP, Guillermit H   1992-05-14
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male, 42y),was diagnosed at 27y, is PS, FEV1=80% and elevated sweat-chloride levels (116mM/l). DeltaF508 was found on the other allele. (Ferec et al. 1993 and pers. corr. Ferec) 
Reference Férec et al. 1993 

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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.

  • Ferec C, Verlingue C, Guillermit H, Quere I, Raguenes O, Feigelson J, Audrezet MP, Moullier P, Mercier B   Genotype analysis of adult cystic fibrosis patients.   1993 010;2(10):1557-60




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The Database was last updated at Apr 25, 2011