Mutation Details for c.358G>A

cDNA Name c.358G>A 
Protein Name p.Ala120Thr 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name A120T 
Other Details  
Contributors    1994-01-01
Institute  
Submitted Phenotype Details Patient (M) is 4y, has sweat-chloride levels of 90mM/l. 5T was found on the other allele. (Pers. corr. Casals) 
Reference Chill√≥n et al. 1994 

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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.

  • Chillon M, Casals T, Gimenez J, Nunes V, Estivill X   Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).   1994;3(3):223-30




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The Database was last updated at Apr 25, 2011