Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.1117G>A
Protein Name
p.Asp373Asn
Exon or Intron
Other Details
Contributors and Institutes
Instituto Venezolano de Investigaciones Cientificas
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Submitted Phenotype Details
It changes an asparagine to an aspartic acid at amino acid position 373 of the protein. This mutation was found in a third generation Venezuelan male patient carrying no mutation on the other chromosome. The patient has respiratory and gastric symptomatology that appeared for the first time at 2 months of age. He had two border line sweat chloride tests (55 and 45 mmol/L).
Reference
in prees
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The Database was last updated at Apr 25, 2011
