Mutation Details for c.2428A>G
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cDNA Name
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c.2428A>G
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Protein Name
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p.Arg810Gly
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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R810G
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Other Details
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The mutation was detected by DGGE analysis and identified by direct DNA sequencing in CBAVD patient with delF508 on the other chromosome.
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Contributors
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Sobczynska-Tomaszewska A, Wolski J K,
Bal J
2001-11-08
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Institute
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The Children's Memorial Health Institute
Private Polyclinic 'Novum', Warsaw, Poland
National Research Institute of Mother and Child, Warsaw, Poland
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Submitted Phenotype Details
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Patient (M) is 40y and has CBAVD.
DeltaF508 was found on the other allele.
(Pers. corr. Sobczynska-Tomaszewska)
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Reference
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Sobczynska-Tomaszewska et al. 2001
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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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