Mutation Details for c.3503A>G

cDNA Name c.3503A>G 
Protein Name p.Asp1168Gly 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name D1168G 
Other Details The D1168G mutation was detected on 1 US caucasian CF chromosome out of 48 screened. ASO analysis of 176 non-CF Caucasian chromosomes did not detect this mutation on any tested chromosomes. This mutation is on the maternal CF chromosome which also bears the I506V polymorphism. The 4 year old male CF patient has suffered from repeated episodes of pneumonia. However, his sweat chloride concentrations are in normal range (30mM). 
Contributors Macek MJr, Sedriks S, Kiesewetter S, Sedriks S, Cutting GR   1993-08-20
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details The CF patient (male, 4y) had repeated episodes of pneumonia, sweat chloride concentrations are in normal range (30mM).He carries the I506V polymorphism on the other allele. (pers. corr. Macek) 
Reference Macek et al. (NL#58) 

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The Database was last updated at Apr 25, 2011