Mutation Details for c.3023T>A

cDNA Name c.3023T>A 
Protein Name p.Val1008Asp 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name V1008D 
Other Details This mutation was detected by SSCA and direct sequencing. The V1008D mutation was identified in two spanish affected sisters with mild lung disease and PS carrying the G542X mutation on the other chromosome. 
Contributors Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X   1998-01-08
Institute IRO Barcelona, Spain 
Submitted Phenotype Details This mutation was found in two sisters. 1. Patient (F) is 23y, has PS, mild lung disease and sweat-chloride levels of 71mM/l. 2. Patient (F) is 20y, has PS, mild lung disease and sweat-chloride levels of 71mM/l. G542X was found on the other allele for both patients. (Pers. corr. Casals) 
Reference Casals et al. (NL#70) 

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The Database was last updated at Apr 25, 2011