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
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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.
Reference
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The Database was last updated at Apr 25, 2011
