Mutation Details for c.1675G>C

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

cDNA Name c.1675G>C 
Protein Name p.Ala559Pro 
Exon or Intron  
Other Details  
Contributors and Institutes error reading database  
Submitted Phenotype Details CF newborn (age 17 days) Mexican patient with consanguineous parents, which was identified through newborn screening program (Elevated IRT blood concentrations in two measurements). Sweat chloride value: 257 mmol/L. Clinical follow-up unavailable. 
Reference Ibarra-Gonz├ílez I et al., J Med Screen. 2017 doi:10.1177/0969141317722808. 

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The Database was last updated at Apr 25, 2011