Mutation Details for c.443T>A

cDNA Name c.443T>A 
Protein Name p.Ile148Asn 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name I148N 
Other Details Patient was from Brazil and of Afro-American origin. The mutation was detected by SSCA and direct sequencing. 
Contributors Casals T, Ramos MD, Gimenez J, Nunes V, Estivill X. Faucz F, Raskin S.   1996-07-19
Institute IRO, Spain. Lab. Genetika, Brazil 
Submitted Phenotype Details No phenotypic information is available about this individual. (Pers. corr. Casals) 
Reference Casals et al. (NL#69) 

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The Database was last updated at Apr 25, 2011