Mutation Details for c.-165G>A

cDNA Name c.-165G>A 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name -33G->A 
Other Details The above mutation was found by DGGE and then direct sequencing of the DNA from a patient with CBAVD from Southern France. This change was not seen in any of the normal alleles in the study. 
Contributors Claustres M, Carles S, Desgorges M   1995-09-08
Institute Institute de Biologie Montpellier 
Submitted Phenotype Details The mutation was identified in a 30 years old male with CBAVD. No other mutation was found. (pers. corr. Claustres) 
Reference Claustres et al (NL#67) 

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The Database was last updated at Apr 25, 2011