Mutation Details for c.4144C>T
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cDNA Name
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c.4144C>T
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Protein Name
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p.Gln1382X
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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Q1382X
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Other Details
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This mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The other CF allele carries [delta]F508. The patient was diagnosed at 9 years of age with a positive sweat test (Cl 100 mmol/l).
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Contributors
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Claustres M,
Carles S
1998-05-26
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Institute
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Institut de Biologie,
Montpellier
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Submitted Phenotype Details
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The 17 years old female patient was diagnosed at 9 years of age, is PI, has moderate pulmonary symptoms and sweat chloride 100 mmol/l. She carries deltaF508 on the other allele. (pers. corr. Claustres)
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Reference
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Claustres & Carles (NL#70)
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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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