Mutation Details for c.173A>G

cDNA Name c.173A>G 
Protein Name p.Asp58Gly 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name D58G 
Other Details This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Tunisia, who is heterozygous for the mutation N1303K. 
Contributors Claustres M, des Georges M, Guittard C   2000-07-19
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details Patient (M) has CBAVD. N1303K was found on the other allele. (pers. corr. Claustres) 
Reference Claustres et al. 2000 

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The Database was last updated at Apr 25, 2011