Mutation Details for c.3927G>T

cDNA Name c.3927G>T 
Protein Name p.Gln1309His 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name Q1309H 
Other Details The mutation was identified in a CBAVD patient in cis with 4041_4046insTGT. Whether the two anomalies are related to the same mutational event was not sought. The complex allele was inherited from the mother. D1152H was identified in trans.  
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Isolated CBAVD 

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The Database was last updated at Apr 25, 2011