Mutation Details for c.1696G>A

cDNA Name c.1696G>A 
Protein Name p.Ala566Thr 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name A566T 
Other Details This mutation was detected by SSCP/HA analysis and confirmed by bi-directional sequencing. The patient's other mutation is deltaF508. Both the patient's parents are Swedish in origin. The patient was referred to Manchester for analysis from the Adult CF Centre at Papworth Hospital, Cambridge by Dr Bilton 
Contributors Wallace A,Bilton D, E Howard, Whittaker J   2003-05-13
Institute National Genetics Reference Lab.,St Mary's Hospital Manchester UK 
Submitted Phenotype Details The patient is pancreatic sufficient and has extremely mild lung disease although has clinically confirmed CF 

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The Database was last updated at Apr 25, 2011