Mutation Details for c.3294G>A

cDNA Name c.3294G>A 
Protein Name p.Trp1098X 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name W1098X(TGA) 
Other Details Mutation W1098X (G->A at 3426) in exon 17b is the same mutation as described by Macek (NL#58) but is due to a different nucleotide change. The mutation was found by direct sequencing. Surprisingly the patient, whose parents do not seem to be consanguineous, is homozygous for this mutation. 
Contributors Michel-Calemard L, Bey Omar F, Morel Y   1996-07-10
Institute Service de Biochimie Endocrinienne et Mol├ęculaire, Hopital Debrousse 
Submitted Phenotype Details  
Reference Michel-Calemard et al. (NL#69) 

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