Mutation Details for c.1597T>C
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.1597T>C
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Protein Name
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p.Phe533Leu
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Myrto Poulou, Maria Tzetis - Department of Medical Genetics, Athens University | - | |
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Submitted Phenotype Details
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This change was identified during general population screening, in a male undergoing IVF. Method used DGGE and direct sequencing.
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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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