Mutation Details for c.2552G>T
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cDNA Name
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c.2552G>T
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Protein Name
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p.Arg851Leu
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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R851L
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Other Details
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The above mutation was detected by DGGE and direct sequencing. It was detected in a CF carrier father who had 2 children, both died of CF. The maternal mutation is unknown.
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Contributors
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Casals T,
Ramos M D,
Gimenez J,
Nunes V,
Estivill X
1996-05-14
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Institute
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IRO, Spain
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Submitted Phenotype Details
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Found in the father of 2 CF patients. Both patietns died, but they were probably homozygous for the R851l mutation.
(Pers. corr. Casals)
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Reference
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Casals et al. (NL#68)
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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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