Mutation Details for c.1696G>A
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cDNA Name
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c.1696G>A
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Protein Name
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p.Ala566Thr
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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A566T
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Other Details
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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
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Contributors
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Wallace A,Bilton D, E Howard, Whittaker J
2003-05-13
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Institute
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National Genetics Reference Lab.,St Mary's Hospital Manchester UK
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Submitted Phenotype Details
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The patient is pancreatic sufficient and has extremely mild lung disease although has clinically confirmed CF
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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