Mutation Details for c.4091C>T

cDNA Name c.4091C>T 
Protein Name p.Ala1364Val 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name A1364V 
Other Details The above mutation was found by DGGE then direct sequencing of a CBAVD patient from Southern France. 
Contributors Claustres M, Carles S, Desgorges M   1995-07-19
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details Patient (M) has CBAVD. DeltaF508 was found on the other allele. (Pers. corr. Claustres; de Meeus et al. 1998) 
Reference Claustres et al (NL#67) 

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The Database was last updated at Apr 25, 2011