Mutation Details for c.1148T>C

cDNA Name c.1148T>C 
Protein Name p.Leu383Ser 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name L383S 
Other Details The L383S mutation has been detected by DGGE and direct sequencing. The patient is a spanish man with CUAVD. 
Contributors Casals T, Ramos M D, Gimenez J, Nunes V, Estivill, X   1997-01-07
Institute IRO Barcelona, Spain 
Submitted Phenotype Details This mutation was found in 2 individuals, both male. 1. PS and CUAVD 5T-12TG was found on the other allele. 2. CBAVD (Pers.corr. Casals) 
Reference Casals et al. (NL#69) 

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The Database was last updated at Apr 25, 2011