Mutation Details for c.1375_1383delTCCACTGGA

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

cDNA Name c.1375_1383delTCCACTGGA 
Protein Name p.Ser459_Gly461del 
Exon or Intron  
Other Details  
Contributors and Institutes
King Fahad Medical City- Riyadh -
Submitted Phenotype Details 5 children from 3 different Saudi families age range 1-6 years 3 males and 2 females. all are having PI and high sweat cl. one has PA.all are homozygous for this mutation. 
Reference not published yet. will be submitted 

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The Database was last updated at Apr 25, 2011