Mutation Details for c.2805_2810delinsTCAGA

cDNA Name c.2805_2810delinsTCAGA 
Protein Name p.Leu941X 
Exon or Intron exon 17 
Other Details Bengali origin; non-consanguineous parents. 
Contributors and Institutes
Martin Schwarz - St Mary's Hospital, Manchester, England
Jo Brock - St Mary's Hospital, Manchester, England
Megan Adaway - St Mary's Hospital, Manchester, England
Chris Charlton - St Mary's Hospital, Manchester, England
Brendan Mullaney - St Mary's Hospital, Manchester, England
  
Submitted Phenotype Details 3 month-old infant with failure to thrive and a cough. Two raised IRTs on Newborn Screening. Sweat test failed due to insufficient sweat, but a strong clinical suspicion of CF remains. 
Reference  

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