Mutation Details for c.580G>T

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

cDNA Name c.580G>T 
Protein Name p.Gly194X 
Exon or Intron  
Other Details It was detected by Next Generation Sequencing and verified by Sanger Sequencing 
Contributors and Institutes
Palaiologou D, Lazaros L, Kanavakis E - Genesis Genoma Lab, Athens, Greece
Submitted Phenotype Details This mutation was identified in a non symptomatic female carrier. No other mutation was detected in the patient.  

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