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.
Reference
To check if there are any papers published about this mutation/variant on PubMed, please click here.
Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011
