Mutation Details for c.1648G>A
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cDNA Name
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c.1648G>A
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Protein Name
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p.Gly550Arg
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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G550R
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Other Details
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The above mutation was detected by DGGE and identified direct sequencing.
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Contributors
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Férec C,
Verlingue C,
Quere I,
Raguenez O,
Audrézet M-P,
Mercier B
1995-06-08
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Institute
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Centre de Transfusion Sanguine et de Biogénétique,
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a patient with CBAVD, carrying deltaF508 on the other allele. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#66)
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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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