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
