Mutation Details for c.3200C>G
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cDNA Name
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c.3200C>G
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Protein Name
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p.Ala1067Gly
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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A1067G
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Other Details
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This change has been detected by DGGE analysis and direct sequencing in one Spanish allele
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Contributors
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J. Gimenez, MD. Ramos, L. Bassas, T. Casals
2004-12-29
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Institute
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CGMM-IRO. Barcelona. Spain
IUNA, F. Puigvert. Barcelona. Spain
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Submitted Phenotype Details
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Male patient with congenital bilateral absence of vas deferens. No other mutation was found (pers. corr. T. Casals)
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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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