Mutation Details for c.2900T>C
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cDNA Name
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c.2900T>C
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Protein Name
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p.Leu967Ser
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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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L967S
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Other Details
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This mutation which was previously reported as a polymorphism (Claustres et al. 1993) is now found in a man with oligospermia.(Original note Zielenski et al. 1997) NL#70
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C
1997-08-12
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Institute
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The Hospital for Sick Children
Toronto, Canada
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Submitted Phenotype Details
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The mutation was found in a patient with oligospermia and idiopathic pancreatitis. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#70)
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