Mutation Details for c.3920A>G
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cDNA Name
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c.3920A>G
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Protein Name
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p.Tyr1307Cys
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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Y1307C
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Other Details
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This change has been detected by DGGE analysis and direct sequencing.
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Contributors
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T. Casals, MD. Ramos, J. Gimenez, L. Bassas
2003-04-09
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Institute
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CGMM-IRO Barcelona, Spain IUNA, F. Puigvert Barcelona, Spain
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Submitted Phenotype Details
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The patient presented CUAVD. No other mutation was identified.
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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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