Mutation Details for c.415_416insTA
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cDNA Name
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c.415_416insTA
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Protein Name
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p.His139LeufsX15
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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547insTA
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Other Details
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The mutation 547insTA was detected in a PS patient with chronic cough, S-K: 85, CXR: 20. Age at diagnosis: 1 month; chloride sweat test: 93 mEq/L; the mutation on the other chromosome is unknown. Father is Russian (Kazakstan) and mother is Greek, but the inheritance of 547insTA has not been determined. The sequence alteration above was found once in 500 chromosomes screened.
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Contributors
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Tzetis M,
Antoniadi Th,
Kanavakis E
1996-02-21
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Institute
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First Department of Pediatrics,
Athens University,
Greece
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Submitted Phenotype Details
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The patient (female, 10 years) was diagnosed at 1 month of age. She is PS, has mild respiratory symptoms with chronic cough and sweat chloride 93 mmol/l. She also carries 2789+4G->A. (pers. corr. Tzetis)
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Reference
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Tzetis et al. (NL#68)
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