Mutation Details for c.2210C>T

cDNA Name c.2210C>T 
Protein Name p.Ser737Phe 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name S737F 
Other Details  
Contributors Dr.Centrone C*.,Dr Pelo E.*,Dr. Dr.Repetto T ‰ª|, Torricelli F*.,   2004-02-17
Institute *U.O.Citogenetica e Genetica A.O. Careggi, viale Morgagni 85, 50134 Florence, Italy, ‰ª| Centro Regionale Fibrosi Cistica, A.O. Meyer, via Luca Giordano, Florence, Italy 
Submitted Phenotype Details This mutation was found in two patients with this characteristic: 1.the first patient is 2 years old (male), is pancreatic sufficiency and he has not Pseudomonas infections. The inique clinical manifestation is loss aof salt. Cl= 71 . 2.the second one is compound heterozygote W1282X and S737F, 2 years old (male). He is pancreatic sufficiency and has not Pseudomonas infection. Cl=51  

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The Database was last updated at Apr 25, 2011