Mutation Details for c.2428A>G

cDNA Name c.2428A>G 
Protein Name p.Arg810Gly 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R810G 
Other Details The mutation was detected by DGGE analysis and identified by direct DNA sequencing in CBAVD patient with delF508 on the other chromosome. 
Contributors Sobczynska-Tomaszewska A, Wolski J K, Bal J   2001-11-08
Institute The Children's Memorial Health Institute Private Polyclinic 'Novum', Warsaw, Poland National Research Institute of Mother and Child, Warsaw, Poland 
Submitted Phenotype Details Patient (M) is 40y and has CBAVD. DeltaF508 was found on the other allele. (Pers. corr. Sobczynska-Tomaszewska) 
Reference Sobczynska-Tomaszewska et al. 2001 

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The Database was last updated at Apr 25, 2011