Mutation Details for c.273+42A>G

cDNA Name c.273+42A>G 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 405+42A/G 
Other Details The G variant was found by DGGE and identified by DNA sequencing in an individual from Estonia heterozygous for S1235R. The new sequence does not modify any known restriction site. M. Teder and K Kaasik Institut of Cell and Molecular Biology Tartu University, Laboratory of Biotechnology RIA 23, Tartu, Estonia Fax: 372 7 420 248 Tel: 372 7 420 210 
Contributors Teder M, Kaasik K, Guittard C, Claustres M   1997-12-09
Institute Tartu University Tartu, Estonia Institut de Biologie Montpellier, France 
Submitted Phenotype Details 405+42A/G was found in an Estonian individual also carrying S1235R. (pers. corr. Claustres)  
Reference Teder et al. (NL#70) 

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The Database was last updated at Apr 25, 2011