Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.3627A>C
Protein Name
p.Gln1209His
Exon or Intron
Other Details
The novel variant was inherited in cis with p.Asp110Glu while the patient also carried p.Ser737Phe in trans.
Contributors and Institutes
error reading database
Submitted Phenotype Details
This change was identified with High Resolution Melting analysis and direct sequencing. The patient of Greek origin(9months old) presented with one episode of metabolic alkalosis (sweat chloride test 60meq/lt).
Reference
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The Database was last updated at Apr 25, 2011
