Mutation Details for c.1567G>T

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

cDNA Name c.1567G>T 
Protein Name p.Ala523Ser 
Exon or Intron exon 11 
Other Details This aminoacid change was found by DGGE and identified by sequencing in a spanish patient . No other mutation was detected 
Contributors and Institutes
Alonso MJ - University of Valladolid-IBGM
Izquierdo I - University of Valladolid-IBGM
Teleria J - University of Valladolid-IBGM
Fernandez I - University of Valladolid-IBGM
Submitted Phenotype Details The patient (male, 13y)has steatorrea and borderline sweat test.No other mutation was detected. 

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The Database was last updated at Apr 25, 2011