Mutation Details for c.713C>T

cDNA Name c.713C>T 
Protein Name p.Ala238Val 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name A238V 
Other Details A new mutation was found (by DHPLC, then both strands DNA have been sequenced) in a CBAVD patient from Southern Italy. 
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 Patient (M) 35Y, has CBAVD, DeltaF508 was found on the other allele , (have poli T 5 in cis with TG 12). They are PI, with moderate/mild lung disease, with sweat chloride 60 mmol/l.  

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The Database was last updated at Apr 25, 2011