Mutation Details for c.3976delT

cDNA Name c.3976delT 
Protein Name p.Ser1326LeufsX2 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4108delT 
Other Details Frameshift mutation 4108delT was found in an Austrian CF patient from Tyrol who is heterozygous for this mutation and for [delta]F508. 
Contributors Dörk T, El-Harith E-H, Ellemunter H, Schmidtke J, Stuhrmann M   1996-08-13
Institute Institut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details The patient (male,4y) was diagnosed at 6 months with CF, after presenting with meconium ileus at birth, sweat chloride 107 mmol/l and the patient is PI. He carries DeltaF508 on the other allele. (pers.corr. Doerk) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011