Mutation Details for c.2259C>G

cDNA Name c.2259C>G 
Protein Name p.Ser753Arg 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name S753R 
Other Details This mutation was identified on one Brazilian CBAVD chromosome. 
Contributors Pieri, PC; Missaglia, MT; Roque, JA; Moreira-Filho, CA; Hallak, J PMID: 17823699   2008-05-12
Institute 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.  

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The Database was last updated at Apr 25, 2011