Mutation Details for c.3398T>G

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3398T>G 
Protein Name p.Leu1133Arg 
Exon or Intron  
Other Details  
Contributors and Institutes
mgr. Malgorzata Libik, PhD,Faculty Hospital Motol, Czech Republic, Dr. Halyna Makukh, Dr. Ludmila Bober – Lviv, Dr. Erika Turak Uzzhorod, Ukraine - Prof. Milan Macek PhD,Faculty Hospital Motol, Czech Republic
Submitted Phenotype Details Ukrainian patient with G542X on the second 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