Mutation Details for c.292C>T

cDNA Name c.292C>T 
Protein Name p.Gln98X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Q98X 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was found in homozygous form in 3 apparently unrelated Pakinstani CF patients. Q98X was seen 3 times (although in homozygous form) among 20 Pakistani CF chromosomes. The first of these was from the North-West and the other 2 were referred by the West Midlands Regional Genetics Service at Birmingham. 
Contributors Urion A, Malone G, Hawworth A, Schwarz M   1995-08-14
Institute Royal Manchester children's Hospital, England 
Phenotype Information CFTR2
Reference Urion et al (NL#67) 

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The Database was last updated at Apr 25, 2011