Mutation Details for c.3371_3373delAAG
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cDNA Name
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c.3371_3373delAAG
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Protein Name
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p.Glu1124del
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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E1123del
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Other Details
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The mutation was detected in the homozygous state in a male from a consanguineous pedigree. The phenotype of this patient is congenital absence of the vas deferens (CBAVD).
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Contributors
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Ellis L
1998-07-07
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Institute
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St. James's University Hospital
Leeds, UK
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Submitted Phenotype Details
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Reference
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Ellis (NL#70)
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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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