Mutation Details for c.3556C>T

cDNA Name c.3556C>T 
Protein Name p.Gln1186X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name Q1186X 
Other Details The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy whose other CF mutation was [delta]F508. The patient was referred by Wessex Regional Genetics Laboratory for rare mutation testing. We have seen it only once in over 150 non-[delta]F508 chromosomes tested. 
Contributors Haworth A, Schwarz M, Malone G   1996-06-10
Institute Royal Manchester Children's Hospital, England. 
Submitted Phenotype Details The female CF patient carries DeltaF508 on the other allele. (pers. corr. Schwarz) 
Reference Haworth 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