Mutation Details for c.419C>T
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cDNA Name
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c.419C>T
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Protein Name
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p.Pro140Leu
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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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P140L
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Other Details
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This mutation was detected by DGGE and direct sequencing.
P140L was found once (1/ 500 chromosomes) in a male CF patient of Greek origin; he presented with meconium at birth, PS and mild bronchitis.
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Contributors
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Tzetis M,
Antoniadi Th,
Kanavakis E
1998-02-02
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Institute
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St. Sophia's Children's Hospital,
Athens, Greece
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Submitted Phenotype Details
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Patient (M) is 7y, has PS, mild lung disease and borderline sweat-chloride levels. He had Meconium Ileus at birth and has recurrent bronchitis.
The other mutation is unknown.
(Pers. corr. Tzetis)
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Reference
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Tzetis et al. (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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