Mutation Details for c.374T>C
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cDNA Name
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c.374T>C
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Protein Name
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p.Ile125Thr
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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I125T
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Other Details
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The mutation was found in a Chinese woman by heteroduplex analysis. No additional information is available.
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Contributors
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Mittre H
1998-08-26
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Institute
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Caen, France
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Submitted Phenotype Details
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The subject (33 years, female) has unknown mutation on the other allele. No phenotypic information available.
(pers. corr. Mittre)
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Reference
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Mittre (NL#70)
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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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