Mutation Details for c.2259C>G

cDNA Name c.2259C>G 
Protein Name p.Ser753Arg 
Exon or Intron exon 14 
Other Details This mutation was identified on one Brazilian CBAVD chromosome. 
Contributors and Institutes
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
  
Submitted Phenotype Details 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. 
Reference  

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The Database was last updated at Apr 25, 2011