Mutation Details for c.4277C>T

cDNA Name c.4277C>T 
Protein Name p.Ser1426Phe 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name S1426F 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing. The mutation destroys a HinfI restriction site. 
Contributors T. Casals, J. Gimenez, MD. Ramos, L. Bassas   2002-01-01
Institute Institut de Recerca Oncologica, Barcelona, Spain IUNA, F. Puigvert, Barcelona, Spain 
Submitted Phenotype Details The mutation was identified in one patient with azoospermia. No other mutation was identified. 

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The Database was last updated at Apr 25, 2011