Mutation Details for c.3389G>C

cDNA Name c.3389G>C 
Protein Name p.Gly1130Ala 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name G1130A 
Other Details This mutation was detected in the heterozygous state in a Turkish CBAVD patient who also is heterozygous for the D1152H mutation. 
Contributors Dayangac D, Erdem H, Özgüc M, Dörk T   2001-10-21
Institute Dept. of Medical Biology Hacettepe University, Sihhiye, Turkey 
Submitted Phenotype Details One patient (34, male) has been diagnosed with CBAVD. He is otherwise asymptomatic. He carries D1152H on the other allele. (pers. corr. Dayangac) 
Reference Dayangac et al. 2001 

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The Database was last updated at Apr 25, 2011