Mutation Details for c.2812G>C
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cDNA Name
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c.2812G>C
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Protein Name
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p.Val938Leu
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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V938L
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Other Details
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This change has been detected by DGGE analysis and direct sequencing in one Spanish chromosome
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Contributors
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MD. Ramos, J. Gimenez, T. Casals
2004-12-29
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Institute
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CGMM-IRO. Barcelona. Spain
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Submitted Phenotype Details
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Male patient with azoospermia (unknown etiology). He presents the genotype [D443Y, G576A, R668C] + [V938L] (pers. corr. T. Casals)
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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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