Mutation Details for c.445G>T

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.445G>T 
Protein Name p.Gly149X 
Exon or Intron exon 4 
Other Details  
Contributors and Institutes
Shastri S - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences and Institute for Genomics and Integrative Biology, New Delhi.
Kabra M - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences and Institute for Genomics and Integrative Biology, New Delhi.
Kabra S K - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences and Institute for Genomics and Integrative Biology, New Delhi.
Wallace A - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences and Institute for Genomics and Integrative Biology, New Delhi.
Bharadwaj D - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences and Institute for Genomics and Integrative Biology, New Delhi.
Rathi J - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences and Institute for Genomics and Integrative Biology, New Delhi.
Sengupta S - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences and Institute for Genomics and Integrative Biology, New Delhi.
  
Submitted Phenotype Details This patient was a two and a half month old Indian male CF child with history of meconium ileus, malabsorption and lower respiratory tract infections. He was heterozygous for this mutation and the second mutation is deltaF508. 
Reference  

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The Database was last updated at Apr 25, 2011