Mutation Details for c.2021A>T

cDNA Name c.2021A>T 
Protein Name p.Asp674Val 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name D674V  
Other Details The mutation was detected by DGGE analysis and characterised by direct sequencing. We have seen it only once, in over 2500 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-05
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details This individual (M) from from Central Italy is 40y and is NOT a CF patient, his wife carrier a W1282X allele in the CFTR gene. 

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The Database was last updated at Apr 25, 2011