Mutation Details for c.3293G>T

cDNA Name c.3293G>T 
Protein Name p.Trp1098Leu 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name W1098L 
Other Details This mutation was identified on the Labanese CF chromosome by sequencing of the whole CFTR gene. No other mutation was identified. 
Contributors Brakensiek,K, Frye-Boukhriss,H, Stuhrmannn,M   2007-06-26
Institute Institute of Human Genetics, Hannover Med. School, Germany 
Submitted Phenotype Details The individual (male, 5y) was suspected to have CF. No clinical information available. 

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The Database was last updated at Apr 25, 2011