Mutation Details for c.1976delA

cDNA Name c.1976delA 
Protein Name p.Asn659IlefsX4 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2108delA 
Other Details This mutation was detected by temporal temperature gel electrophoresis (TTGE). The mutation was identified with DNA sequencing. It was found in a Hispanic CF patient. 
Contributors Wang J, Wong L-J   1999-07-13
Institute Institute for Molecular and Human Genetics Georgetown University Medical Center 
Submitted Phenotype Details The mutation was identified in a female patient (20 y) diagnosed with CF at 6 months. She is PI, has sweat chloride 110 mmol/l and FEV1 at age 18 was 20%. She had PA&Alcaligenes xyloxidans&Asp. fumigatus colonization. Delta F508 was on the other allele. (pers.corr. Alper) 
Reference Wang & Wong 1999 

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The Database was last updated at Apr 25, 2011