Mutation Details for c.1247A>G

cDNA Name c.1247A>G 
Protein Name p.Asn416Ser 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name N416S 
Other Details The mutation was detected by DGGE and DHPLC and identified by direct sequencing. We have seen it only once, in over 3000 chromosomes analysed by DGGE.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-06
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details The male patient (30y) was found during our screening program of relatives carriers. 

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The Database was last updated at Apr 25, 2011