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 This nucleotide change was identified in two Italian patients. 
Contributors Centrone C, Pelo E, Repetto T, Torricelli F    2004-06-16
Institute U.O. Citogenetica e Genetica A.O. Careggi  
Submitted Phenotype Details The first patient is 2 years old (male), is pancreatic sufficiency and he has not Pseudomonas infections. The unique clinical manifestation is loss aof salt. Cl= 71. The second one is compound heterozygote W1282X and S737F, 2 years old (male). He is pancreatic sufficiency and has not Pseudomonas infection. Cl=51  

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011