Mutation Details for c.3293G>A
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cDNA Name
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c.3293G>A
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Protein Name
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p.Trp1098X
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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W1098X(TAG)
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Other Details
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The W1098X mutation has been found in a 18 year old female. She was diagnosed due to steatorrhea at the age of 2 years with sweat chloride concentration of 95mM. She is pancreatic insufficient and has only mild lung disease (FEV1 83%, FVC 96% predicted) recently complicated by Pseudomonas aeruginosa infection. The patient also carries the [delta]F508 mutation.
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Contributors
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Macek MJr,
Davis CL,
Hamosh A,
Cutting GR
1993-08-04
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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The patient(18, female) was diagnosed at 2; sweat chloride 95mM/l. She is pancreatic insufficient and has mild lung disease (FEV1 83%, FVC 96% predicted) complicated by Pseudomonas aeruginosa infection. The patient carries the [delta]F508 mutation on the other allele.
(pers. corr. Macek)
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Reference
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Macek et al. (NL#58)
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