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