Mutation Details for c.374T>C

cDNA Name c.374T>C 
Protein Name p.Ile125Thr 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name I125T 
Other Details The mutation was found in a Chinese woman by heteroduplex analysis. No additional information is available. 
Contributors Mittre H   1998-08-26
Institute Caen, France 
Submitted Phenotype Details The subject (33 years, female) has unknown mutation on the other allele. No phenotypic information available. (pers. corr. Mittre) 
Reference Mittre (NL#70) 

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The Database was last updated at Apr 25, 2011