Mutation Details for c.2259C>G
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cDNA Name
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c.2259C>G
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Protein Name
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p.Ser753Arg
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Exon or Intron
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exon 14
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Other Details
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This mutation was identified on one Brazilian CBAVD chromosome.
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Contributors and Institutes
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| Pieri, PC | - | Divisão de Clínica Urológica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo | | Missaglia, MT | - | Divisão de Clínica Urológica, Hospital das Clínicas, FaDivisão de Clínica Urológica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Pauloculdade de Medicina, Universidade de São Paulo | | Roque, JA | - | Divisão de Clínica Urológica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo | | Moreira-Filho, CA | - | Divisão de Clínica Urológica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo Divisão de Clínica Urológica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo | | Hallak, J | - | Divisão de Clínica Urológica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo |
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Submitted Phenotype Details
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The individual (a 30 year-old Caucasian man of Spanish descent), was referred to a pneumologist due to chronic respiratory infections, sinusitis and rhinitis since early childhood, who referred him to an urologist. Physical examination showed bilateral absence of vas deferens (CBAVD) and a cyst on the head of the right epididymus. Seminal analysis revealed azoospermia and low volume of ejaculate (<1mL) secondary to bilateral hypoplastic seminal vesicles identified by transretal ultrasound. The abdominal ultrasound showed normal topic kidneys and the sweat test showed normal chloride concentration.
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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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