Mutation Details for c.3787A>G

cDNA Name c.3787A>G 
Protein Name p.Thr1263Ala 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name T1263A 
Other Details The mutation was detected by DHPLC analysis and characterized by direct sequencing. We have seen it only once, in over 3000 control chromosomes from Italian population. 
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-18
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details The mutation was identified in one patient with azoospermia, husband of a CF carrier, from North-East Italy . 

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The Database was last updated at Apr 25, 2011