Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.1114C>T
Protein Name
p.Gln372X
Exon or Intron
Other Details
Legacy name: Q372X
Contributors and Institutes
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
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Submitted Phenotype Details
Found in one Czech female CF patient who was diagnosed at the age of 6 months. She is pancreatic insufficient, has bronchiectasis and caugh. Sweat chloride concentration 78 mmol/l. F508del on the other allele.
Reference
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The Database was last updated at Apr 25, 2011
