Mutation Details for c.3193C>T
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cDNA Name
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c.3193C>T
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Protein Name
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p.Leu1065Phe
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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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L1065F
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Other Details
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This mutation was detected by DGGE and direct sequencing.
L1065F was found once (1/ 500chromosomes) in a male CF patient of Greek origin; his other CF mutation is [delta]F508. The patient is PI.
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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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This mutation was found in two patients.
1. Patient (M) is 11, has PS, FEV1=94%, sweat-chloride levels of 76mEq/l and nasal polyps.
621+1G>T was found on the other allele.
2. Patient (M) is 6, has PI, severe lung disease, sweat-chloride levels of 100mEq/l and Pseudomonas infecions.
DeltaF508 was found on the other allele.
(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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