Mutation Details for c.3169A>G

cDNA Name c.3169A>G 
Protein Name p.Thr1057Ala 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name T1057A 
Other Details T1057A was found in a fetus. 
Contributors Ghanem N, Girodon E, Flori J, Goossens M   1996-03-22
Institute Hopital Henri Mondor, Creteil, France 
Submitted Phenotype Details T1057A was found in a 9 year old male also carrying N1303K on the other allele; genetic counselling during pregnancy, child not affected, normal IRT->T1057A considered as a polymorphism. (pers. corr. Girodon)  
Reference Ghanem et al. (NL#68) 

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The Database was last updated at Apr 25, 2011