Mutation Details for c.579+38t>C

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.579+38t>C 
Exon or Intron  
Other Details Its not posible determinate if both variations are in cis or trans because we have not sample of the parents.  
Contributors and Institutes
Maria-Jesus Alonso.IBGM-Universidad Valladolid -
Submitted Phenotype Details Male 17y.Repetitive respiratory symptoms since birth. 

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The Database was last updated at Apr 25, 2011