Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.3160C>T
Protein Name
p.His1054Tyr
Exon or Intron
Other Details
Contributors and Institutes
Alonso MJ et al. IBGM-University Valladolid. Spain
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Submitted Phenotype Details
This substitution was found by DGGE and direct sequenciang in an Algerian female with positive newborn screening. No otrher mutation founded after 83%screened. Sweat chloride 33 meq/L.
Reference
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The Database was last updated at Apr 25, 2011
