Mutation Details for c.1392G>T
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cDNA Name
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c.1392G>T
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Protein Name
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p.Lys464Asn
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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K464N
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Other Details
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This mutation was identified in one CF patient carrying the 3659delC mutation on the other chromosome. No other mutation was detected after a wide CFTR gene mutation screening (27 exons and intronic boundaries) by DHPLC methodology.
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Contributors
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Bieth E., Gaston V., Gautry P.
2003-09-18
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Institute
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Laboratoire de GŽnŽtique MŽdicale; H™pital Purpan; CHU de Toulouse (France)
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Submitted Phenotype Details
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The patient (French origin) was a newborn child referred for elevated immunoreactive trypsinogen (newborn screening) and positive sweat test (Cl- > 100 mEq/l). At age 6 months he expressed a severe phenotype with pancreatic insufficiency, chronic cough and bronchial infection (H. influenzae and S. aureus).
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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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