Mutation Details for c.359C>T

cDNA Name c.359C>T 
Protein Name p.Ala120Val 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name A120V 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing. 
Contributors T. Casals, J. Gimenez, MD. Ramos, S. Gartner   2003-04-09
Institute CGMM-IRO Barcelona, Spain UFQ, HVH Barcelona, Spain 
Submitted Phenotype Details The patient 2 months old was identified in the neonatal screening program. He carries the G542X mutation on the other allele. To date, the patient 6 monts old, normal sweat test and without symptoms. 

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The Database was last updated at Apr 25, 2011