Mutation Details for c.992T>A
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cDNA Name
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c.992T>A
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Protein Name
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p.Ile331Asn
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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I331N
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Other Details
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Contributors
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Bulman M, Brownsell E, Schwarz MJ.
2008-07-24
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Institute
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Regional Molecular Genetics Laboratory
St Mary’s Hospital, Manchester, England
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Submitted Phenotype Details
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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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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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