Mutation Details for c.3142A>G

cDNA Name c.3142A>G 
Protein Name p.Arg1048Gly 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name R1048G 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 2100 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-11
Institute Lab. Genetica Molecolare Dip Pediatria, Padova, Italy 
Submitted Phenotype Details The change was found in the asymptomatic husband of a CF carrier (sister of a CF patient). The couple, origin from Germany, have a daughter (1 y) R1162X/R1048G with a negative sweat chloride test, further clinical information is not available. 

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The Database was last updated at Apr 25, 2011