Mutation Details for c.1373G>T

cDNA Name c.1373G>T 
Protein Name p.Gly458Val 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name G458V 
Other Details This mutation has been found in one CF chromosome of Belgian origin and is associated with haplotype XV2c/CS7/KM19/D9 : 2111. The mutation has been detected by direct sequencing of amplified DNA of this patient and has been confirmed by dot-blot analysis. This mutation has been detected in one out of 51 CF chromosomes (15 of them having the F508 deletion, one has a G542X mutation and 35 having an unknown mutation). 
Contributors Cuppens H, Marynen P, Cassiman JJ   1990-03-20
Institute University of Leuven Leuven, Belgium 
Submitted Phenotype Details One patient, male.G542X on the other allele (pers. corr. De Boeck) 
Reference Cuppens et al. 1990 

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The Database was last updated at Apr 25, 2011