Mutation Details for c.4051A>G
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cDNA Name
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c.4051A>G
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Protein Name
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p.Lys1351Glu
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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K1351E
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Other Details
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Missense mutation K1351E was identified in a German CBAVD patient who is heterozygous for this mutation and for [delta]F508.
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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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The male patient was diagnosed with CBAVD, and is PS. He carries DeltaF508 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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