Mutation Details for c.1726G>T

cDNA Name c.1726G>T 
Protein Name p.Gly576X 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name G576X 
Other Details The above mutation was discovered by DGGE and identified by direct sequencing. G576X was found in a 4-year old Romanian patient who has severe pulmonary infection since the age of 18 months; the other mutation for this patient is unknown. 
Contributors Girodon E, Costes B, Cazeneuve C, Ghanem N, Goossens M   1995-11-10
Institute Hopital Henri Mondor, Creteil, France 
Submitted Phenotype Details G576X was found in a patient also carrying 621+1G>T on the other allele. The 12y F was diagnosed at 4y, is PI and has severe lung disease. (pers. corr. Girodon) 
Reference Girodon et al (NL#67) 

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