Mutation Details for c.214G>A

cDNA Name c.214G>A 
Protein Name p.Ala72Thr 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name A72T 
Other Details The mutation A72T was detected in a cascade carrier screening in a healthy female. The above mutation was discovered by DGGE and identified by direct sequencing. The A72T mutation has been found once in 353 non-deltaF508 CF chromosomes from the Portuguese population. This mutation was found neither in 291 normal chromosomes nor in 177 with an identified CF mutation. 
Contributors Pacheco P, Loureiro P, Lavinha J   1999-06-02
Institute Instituto Nacional de Sa├║de Lisboa, Portugal 
Submitted Phenotype Details This individual (32,female) is a healthy carrier (found in cascade screening). No other mutation was found. (pers. corr. Pacheco) 
Reference Pacheco et al. 1999 

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The Database was last updated at Apr 25, 2011