Mutation Details for c.4163T>A

cDNA Name c.4163T>A 
Protein Name p.Leu1388Gln 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name L1388Q 
Other Details The above mutation was found once in a sample of 50 German CBAVD patients. The patient was heterozygous for L1388Q and [delta]F508. 
Contributors Dörk T, Stuhrmann M, Horst J, Dworniczak B   1996-03-15
Institute Medizinische Hochschule, Hannover, Germany 
Submitted Phenotype Details The patient (male, 39) was diagnosed at 37 with CBAVD. He is PS; DeltaF508 was found 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