Mutation Details for c.2799A>T
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cDNA Name
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c.2799A>T
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Protein Name
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p.Arg933Ser
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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R933S
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Other Details
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R933S was found in a German patient with CBAVD who is also heterozygous for [delta]F508.
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Contributors
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Dörk T,
Schmidtke J,
Stuhrmann M
1996-09-23
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Institute
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Institut fur Humangenetik, Medizinische Hochschule Hannover,
Hannover, Germany.
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Submitted Phenotype Details
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The patient (male) is PS, was diagnosed with CBAVD and carries DelF508 on the other allele.
(pers.corr. Doerk)
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Reference
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Dörk et al. (NL#69)
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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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