Mutation Details for c.4056G>C
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cDNA Name
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c.4056G>C
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Protein Name
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p.Gln1352His
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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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Q1352H(G->C)
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Other Details
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Contributors
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Nukiwa T,
Seyama K
1993-05-13
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Institute
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Juntendo University
Tokyo, Japan
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Submitted Phenotype Details
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This mutation was found in a patient with diffuse panbronchiolitis.
It was also found by Yoshimura in 3 out of 12 Japanese CBAVD patients in 1999. Two of them had mutations W216X and G1349S in the other allele. It was also found in 3 out of 25 patients with diffuse panbronchiolitis, one of them having E217G in the other allele. (orig note)
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Reference
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Nukiwa & Seyama (NL#55)
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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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