Mutation Details for c.454A>T
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cDNA Name
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c.454A>T
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Protein Name
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p.Met152Leu
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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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M152L
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Other Details
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Contributors
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Angius A, Bitetti M, Furbetta M.
2006-05-12
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Institute
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Pediatria, Laboratorio di Genetica Molecolare, Università degli Studi di Perugia, Italy.
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Submitted Phenotype Details
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This mutation was detected in a 48 y old Italian man with asthenospermia undergoing screening due to infertility treatment. The above mutation was detected by DGGE analysis and confirmed by DNA 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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