Mutation Details for c.3222T>A
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cDNA Name
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c.3222T>A
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Protein Name
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p.Phe1074Leu
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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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F1074L
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Other Details
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F1074L was observed by direct sequencing after detection of an abnormal DGGE pattern in exon 17b. CF patient with unknown mutation in the other chromosome, presented lung involvement and PI.
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Contributors
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Casals T,
Gimenez J,
Ramos MD,
Nunes V,
Estivill X
1995-03-22
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Institute
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Institut de Recerca Oncologica
Barcelona, Spain
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Submitted Phenotype Details
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Patient (M) is 15y, has PI, FEV1=93% and sweat-chloride levels of 100mM/l.
No other mutations have been found.
This mutation was also found in 2 CBAVD patients.
(Pers. corr. Casals)
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Reference
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Casals et al. (NL#65)
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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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