Mutation Details for c.3739G>A

cDNA Name c.3739G>A 
Protein Name p.Gly1247Arg 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name G1247R(G->A) 
Other Details Patient was from Brazil and is of Afro-American origin. The G1247R mutation was detected by DGGE and direct sequencing. The patient is homozygous for the mutation, with PI and mild lung disease. 
Contributors Casals T, Ramos MD, Gimenez J, Nunes V, Estivill X. Faucz F, Raskin S.   1996-07-19
Institute IRO, Spain. Lab. Genetika, Brazil 
Submitted Phenotype Details Patient has PI and mild lung disease. This patient is homzygous for G1247R (Pers. corr. Casals) 
Reference Casals et al. (NL#69) 

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The Database was last updated at Apr 25, 2011