Mutation Details for c.476T>C

cDNA Name c.476T>C 
Protein Name p.Leu159Ser 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L159S 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing. The mutation creates a TaqI restriction site 
Contributors T. Casals,J. Gimenez,MD. Ramos,C. Soler   2002-01-01
Institute CGMM-IRO, Barcelona, Spain Hospital Xeral-Cies Vigo, Spain 
Submitted Phenotype Details The patient (male, 3 months) was diagnosed at 3 m., PS, sweat test 70 mMol/L. He carries F508del on the other allele. 

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