Mutation Details for c.328G>T

cDNA Name c.328G>T 
Protein Name p.Asp110Tyr 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name D110Y 
Other Details This mutation was found by SSCA and direct DNA sequencing in a CBAVD patient. (reported in Human Reproduction (2000) 15, 1476-1483). 
Contributors Casals T, Gimenez J, Ramos M D, Estivill X   2000-08-02
Institute CGMM IRO Barcelona, Spain 
Submitted Phenotype Details Patient (M) is 42y, has PS and CBAVD. DeltaF508 was found on the other allele. (Pers. corr. Casals) 
Reference Casals et al. 2000 

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The Database was last updated at Apr 25, 2011