Mutation Details for c.4129G>C
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cDNA Name
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c.4129G>C
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Protein Name
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p.Asp1377His
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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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D1377H
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Other Details
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The nucleotide change G->C at position 4261 was found in an infertile man with CBAVD having no manifestation of gastrointestinal or pulmonary disease. This nucleotide substitution destroys a recogntion site for the restriction enzyme BamHI, or MboI.
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Contributors
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Costes B,
Ghanem N,
Goossens M
1993-07-08
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Institute
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Hopital Henri Mondor
Creteil, France
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Submitted Phenotype Details
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D1377H, was found in a 46y old M, diagnosed with CBAVD at 35y, PS, also carrying 2622+1G>A. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#56)
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