Mutation Details for c.2981T>G

cDNA Name c.2981T>G 
Protein Name p.Phe994Cys 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name F994C 
Other Details This mutation was detected by DGGE and direct sequencing in a CBAVD patient from Southern France. The new sequence creates a SfaNI site. 
Contributors Claustres M, Guittard C, Des George M, Carles S   1998-01-06
Institute Institut de Biologie, Montpellier, France 
Submitted Phenotype Details Patient (M) has CBAVD. 5T was found on the same allele as F994C. DeltaF508 was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al. (NL#70) 

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The Database was last updated at Apr 25, 2011