Mutation Details for c.3816_3817delGT
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cDNA Name
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c.3816_3817delGT
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Protein Name
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p.Ser1273LeufsX28
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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3944delGT
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Other Details
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This mutation was detected in a deceased Czech male CF patient. No clinical information was available
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Contributors
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Macek M, Jr,
Krebsova A,
Macek M,
Reynaert I,
Cassiman J-J,
Cuppens H
1997-12-12
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Institute
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Charles University,
Prague, Czech Republic
University of Leuven,
Gasthuisberg, Leuvan, Belgium
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Submitted Phenotype Details
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The 3944delTT mutation was associated with classical severe CF phenotype, the patient died;the patient was diagnosed at 1y of age, was PI, with severe lung disease and sweat chloride over 80 mmol/l.
(pers. corr. Macek)
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Reference
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Macek 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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