Mutation Details for c.1586A>G

cDNA Name c.1586A>G 
Protein Name p.Asp529Gly 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name D529G 
Other Details This mutation was identified on one German chromosome by sequencing of the whole CFTR gene. 
Contributors Brakensiek,K, Frye-Boukhriss,H, Stuhrmannn, M   2007-06-26
Institute Institute of Human Genetics, Hannover Med. School, Germany 
Submitted Phenotype Details The patient with the clinical diagnosis of CF (male , 17 y) is carrying [delta]F508 on his other allele. No clinical information is available. 

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The Database was last updated at Apr 25, 2011