Mutation Details for c.803delA
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cDNA Name
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c.803delA
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Protein Name
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p.Asn268IlefsX17
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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935delA
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Other Details
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This mutation was detected by temporal temperature gel electrophoresis (TTGE) and identified by sequencing.
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Contributors
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Wang JJ
Wong LJC
1998-12-31
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Institute
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Molecular Diagnostic Laboratory,
Institute of Molecular and Human Genetics,
Georgetown University Medical Center
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Submitted Phenotype Details
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2 patients with this mutation were described:
-one carried 663delT on the other allele, diagnosed in infancy, after meconium ileus, died at 4 years of age. She had sweat chloride 114 mmol/l, was PI, and had PA and Staph Aureus infections.
-one carried deltaF508 on the other allele, was 8 years old male at the time of genetic analysis, diagnosed at 2 weeks of age for meconium ileus, PI, with FEV1 97% and sweat chloride 103 mmol/l, had Pseudomonas Aeruginosa and Staph. Aureus infections and liver disease.( pers. corr. Alper and Wang et al. 2000)
The 935delA mutation is described as associated with severe course of CF - Wong et al. 2001
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Reference
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Wang 1998
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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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