Mutation Details for c.198_202delTCCTA

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

cDNA Name c.198_202delTCCTA 
Protein Name p.Asn66LysfsX4 
Exon or Intron  
Other Details This mutation was screened by Sanger sequencing of 10 exons and their intron-exon border. This deletion was not found in 220 other chromosomes from Argentina CF patients and it was found together with another classical mutation, c.2052_2053insA. Parents studies are in progress. 
Contributors and Institutes error reading database  
Submitted Phenotype Details The patient is a seven month old Argentinean girl with no family history of CF. She presented ileus meconial at birth. The neonatal screening was positive (IRT=220 ng/ml; positive value>70 ng/ml) and the sweat test was positive at the first month of life (chloride, right arm 110 meq/l and left arm 108 meq/l). She presents early pulmonary symptoms and pancreatic insufficiency based on clinical criteria.  

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