Mutation Details for c.1675G>A

cDNA Name c.1675G>A 
Protein Name p.Ala559Thr 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name A559T 
Other Details This mutation has been observed on only one Black CF chromosome. We have not found this mutation on 27 normal Black chromosomes which have at least a 2 site haplotype in common with the haplotype associated with this mutation. 
Contributors Cutting GR   1990-01-24
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Phenotype Information CFTR2
Reference Cutting et al. 1990a 

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The Database was last updated at Apr 25, 2011