Mutation Details for c.3386T>G

cDNA Name c.3386T>G 
Protein Name p.Val1129Gly 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name V1129G 
Other Details This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in a young patient from Southern France suspected to have cystic fibrosis. She carries the 1716 G->A polymorphism in trans. 
Contributors M.Claustres,M.des Georges,JP.Altieri   2002-12-09
Institute Institut de Biologie, Montpellier 
Submitted Phenotype Details The 3 year old female was suspected of CF since 2 year old, having mild respiratory symptoms, sweat chloride 58-70 mmol/l and diarrhea. 1716G->A was found on the other allele. (pers. corr. Claustres).  

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The Database was last updated at Apr 25, 2011