Mutation Details for c.3074C>A

cDNA Name c.3074C>A 
Protein Name p.Ala1025Asp 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name A1025D 
Other Details This heterozygous mutation was identified in a patient of Thai origin. 
Contributors Iris Schrijver, Wikrom Karnasakul, Sudha Ramalingam, Ramalingam Sankaran, Richard Moss, Phyllis Gardner   2004-01-22
Institute Stanford University School of Medicine, Stanford, CA,USA 
Submitted Phenotype Details The patient is a 4 month old male infant who presented with hyponatremic hypochloremic metabolic alkalosis and a non-febrile generalized tonic clonic seizure. The other allele carried a frameshift mutation, 4330delTG which has been previously reported (as 4332delTG) in a pancreatic sufficient patient from Southern France. 

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The Database was last updated at Apr 25, 2011