Mutation Details for c.1001G>T
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cDNA Name
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c.1001G>T
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Protein Name
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p.Arg334Leu
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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R334L
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Other Details
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Missense mutation E334L was detected in a German CBAVD patient who is compound heterozygous for the R334L and I336K mutations.
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Contributors
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Dörk T,
El-Harith E-H,
Ellemunter H,
Schmidtke J,
Stuhrmann M
1996-08-13
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Institute
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Institut fur Humangenetik, Medezinische Hochschule Hannover,
Hannover, Germany.
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Submitted Phenotype Details
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One patient (male, 33y) diagnosed at 33y with CBAVD, is PS, has recurrent pulmonary infections and nasal poliposis. He carries I336K 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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