Mutation Details for c.1635_1640del

cDNA Name c.1635_1640del 
Protein Name p.Ile546_Thr547del 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1767del6 
Other Details  
Contributors Dayangac   2002-01-01
Institute Dept. of Medical Biology Hacettepe University, Sihhiye, Turkey 
Submitted Phenotype Details The mutation was identified in a 37 years old male with CBAVD. He is homozygous for 1767del6.(pers.corr. Dayangac) 

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The Database was last updated at Apr 25, 2011