Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.3708delT
Protein Name
p.Gly1237AlafsX22
Exon or Intron
Other Details
Legacy name: 3840delT
Contributors and Institutes
Timothy W. Hefferon - National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland,USA Stambergova A., Piskáčková T., Krenkova P., Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic
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Submitted Phenotype Details
This mutation was found in one Czech CF patient who was diagnosed at the age of 3 years. Sweat chloride concentration of 80,6 mmol/l. He is chronically infected with Pseudomonas aeruginosa and is pancreatic insufficient. He bears 2921delG on the second CF allele.
Reference
To check if there are any papers published about this mutation/variant on PubMed, please click here.
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The Database was last updated at Apr 25, 2011
