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cDNA Name
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c.4297G>A
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Protein Name
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p.Glu1433Lys
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Exon or Intron
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Other Details
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Per genetics report: The p.E1433K variant (also known as c.4297G>A) is located in exon 27 of the CFTR gene. The variant results from a G to A substitution at nucleotide position 4297. The glutamate at codon 1433 is replaced by lysine.This variant is predicted to be probably damaging by PolyPhen.
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Contributors and Institutes
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| K. Whitley | - | Phoenix Children's Hospital |
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Submitted Phenotype Details
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Female born in Bangladesh and adopted/moved to the US in infancy. Hospitalized as an infant for failure to thrive which resolved. Referred for CF eval at 20yo for chronic, recurrent sinus issues including polyps and multiple sinus surgeries. Also had childhood asthma which resolved by adulthood. Pancreatic sufficient. Sweat testing done on two occasions was 63/64 and 67/76. Pt is now in her 30's and has moderate lung disease. Chronically grows staph (MSSA) on airway culture. Genetic report also identified the 13-5T variant.
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Reference
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Ambry Genetics lab report dated 02/20/2012
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