Mutation Details for c.992T>A

cDNA Name c.992T>A 
Protein Name p.Ile331Asn 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name I331N 
Other Details  
Contributors Bulman M, Brownsell E, Schwarz MJ.   2008-07-24
Institute Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England 
Submitted Phenotype Details 27 year old patient who was diagnosed with CF as a child. Sweat testing was reported as “abnormal”. She took Pancreatic enzyme as a child but stopped at 9 years of age. She has no medication or physiotherapy currently. Her Father is Caucasian and her Mother originates from the Philippines. G551D was detected on the other chromosome.No other sequence changes were found after sequencing the entire coding region of the gene.  

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The Database was last updated at Apr 25, 2011