Mutation Details for c.1865G>A
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cDNA Name
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c.1865G>A
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Protein Name
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p.Gly622Asp
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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G622D
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Other Details
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G622D was found in a patient with oligospermia. This putative mutation creates a new MboII site.
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Contributors
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Zielenski J,
Markiewicz D,
Tsui L-C
1996-05-01
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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 reported by the contributor in a patient with oligospermia. (Vankeerberghen et al. 1998)
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Reference
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Zielenski et al. (NL#68)
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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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