Mutation Details for c.4225G>A
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cDNA Name
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c.4225G>A
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Protein Name
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p.Glu1409Lys
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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E1409K
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Other Details
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This mutation was detected by DGGE method from a Spanish CBAVD patient carriying the N1303K mutation in the other allele.It was not found in 200 CF chromosomes. It destroys a BsmI restriction site.
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Contributors
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Alonso MJ, Velasco E, Telleria J, Fernandez I, Blanco A.
2003-07-13
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Institute
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Laboratorio de Pediatría- IBGM. Facultad de medicina. Universidad de Valladolid. Spain
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Submitted Phenotype Details
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CBAVD
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Reference
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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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