Mutation Details for c.3160C>T

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

cDNA Name c.3160C>T 
Protein Name p.His1054Tyr 
Exon or Intron  
Other Details  
Contributors and Institutes
Alonso MJ et al. IBGM-University Valladolid. Spain -
Submitted Phenotype Details This substitution was found by DGGE and direct sequenciang in an Algerian female with positive newborn screening. No otrher mutation founded after 83%screened. Sweat chloride 33 meq/L. 

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The Database was last updated at Apr 25, 2011