Mutation Details for c.3298C>A

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3298C>A 
Protein Name p.Gln1100Lys 
Exon or Intron  
Other Details  
Contributors and Institutes error reading database  
Submitted Phenotype Details The nucleotide change C>A (codon 1100 in expn 17B) has been found in a 28y Turkish Caucasian infertile male diagnosed with CBAVD having no manifestation of gastrointestinal or pulmonary disease. He carries the p.L997F on the other allele. Mutations identified by DHPLC and confirmed by direct DNA sequencing. 

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The Database was last updated at Apr 25, 2011