Mutation Details for c.4127_4131delTGGAT

cDNA Name c.4127_4131delTGGAT 
Protein Name p.Leu1376SerfsX8 
Exon or Intron exon 25 
Other Details  
Contributors and Institutes
Krenkova P. - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic
Balascakova M. - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic
Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic
  
Submitted Phenotype Details This mutation was detected in two Czech siblings with sever CF carrying p.Gly551Asp on the other allele and in one newborn who is heterozygous for mutation p.Gln552X. The newborn (male) was diagnosed at his first month due to bad prosperity and was concurrently detected by newborn screening. Sweat chloride level 90 mmol/l. The siblings have sweat chloride over 100 mmol/l and suffer from bad prosperity and frequent infections. 
Reference  

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The Database was last updated at Apr 25, 2011