Mutation Details for c.3186A>G
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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.3186A>G
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Protein Name
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p.Leu1062Leu
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Angius A.,Stasi M., Cardellini M.C., Becchetti T., Furbetta M. | - | Institute of Pediatria, -Lab. di Genetica Molecolare- Università degli Sudi di Perugia |
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Submitted Phenotype Details
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L1062L was observed by direct sequencing after detection of an abnormal DGGE pattern in exon 17b in a italian male with severe oligospermia studied for couple's infertility.He had c.274-6T>C in trans.The same no change mutation was identified in a female patient also screened in a program for infertility.
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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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