Mutation Details for c.3458T>A

cDNA Name c.3458T>A 
Protein Name p.Val1153Glu 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name V1153E 
Other Details The above mutation was found once in a sample of 50 German CBAVD patients. The patient was heterozygous for V1153E and for 3272-26A->G. 
Contributors Dörk T, Stuhrmann M, Horst J, Dworniczak B   1996-03-15
Institute Medizinische Hochschule, Hannover, Germany 
Submitted Phenotype Details The patient (male, 36) was diagnosed at 34 with CBAVD. He is PS. He carries 3272-26A->G on the other allele. (pers. corr. Doerk) 
Reference Dörk et al. (NL#68) 

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The Database was last updated at Apr 25, 2011