Mutation Details for c.2705delG

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.2705delG 
Protein Name p.Ser902ThrfsX4 
Exon or Intron  
Other Details Legacy name: 2837delG 
Contributors and Institutes
Timothy W. Hefferon - National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland,USA Ferec C., Audrezet MP, Chen JM - INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique), Brest, France - Krenkova P., Piskáčková T., Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic
Submitted Phenotype Details Found in one Czech female CF patient carrying 2143delT on the other allele. Diagnosed at the two months of age. Sweat chloride concentration 102 mmol/l, chronic caugh.  

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The Database was last updated at Apr 25, 2011