Mutation Details for c.2916_2917delTCinsAT

cDNA Name c.2916_2917delTCinsAT 
Protein Name p.Leu973Phe 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name L973F 
Other Details L973F was found in a German CBAVD patient heterozygous for this mutation and the 2789+5G->A mutation. 
Contributors Dörk T, Stuhrmann M   1996-04-29
Institute Medizinische Hochschule, Hannover, Germany 
Submitted Phenotype Details The patient (male) is PS and diagnosed with CBAVD. He carries 2789+5G->A on the other allele. (pers.corr. Doerk) 
Reference Dörk and Sturhmann (NL#68) 

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The Database was last updated at Apr 25, 2011