Mutation Details for c.4277C>T
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cDNA Name
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c.4277C>T
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Protein Name
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p.Ser1426Phe
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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S1426F
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Other Details
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This change has been detected by SSCP/HD analysis and direct sequencing. The mutation destroys a HinfI restriction site.
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Contributors
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T. Casals, J. Gimenez, MD. Ramos, L. Bassas
2002-01-01
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Institute
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Institut de Recerca Oncologica, Barcelona, Spain IUNA, F. Puigvert, Barcelona, Spain
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Submitted Phenotype Details
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The mutation was identified in one patient with azoospermia. 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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