Mutation Details for c.2813T>G
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cDNA Name
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c.2813T>G
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Protein Name
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p.Val938Gly
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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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V938G
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Other Details
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V938G was identified in two patients, one homozygote with CUAVD, and one heterozygote with CBAVD and carrying the previously reported 174delA mutation.
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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 homozygous patient (male, 29) was diagnosed with asthma and CUAVD. He is PS.
(pers.corr. Doerk)
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Reference
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Dörk et al. (NL#69)
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