Mutation Details for c.1438G>A
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cDNA Name
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c.1438G>A
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Protein Name
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p.Gly480Ser
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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G480S
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Other Details
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The mutation was detected in a 1 year old patient by multiple heteroduplex analysis on the MDE gel matrix.
The patient was heterozygous for the A559T mutation.
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Contributors
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Kawasoe J,
Tsui L-C,
Zielenski J
2001-06-29
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Institute
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Hospital for Sick Children
Toronto, Canada
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Submitted Phenotype Details
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Reference
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Kawasoe 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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