Mutation Details for c.3634G>A

cDNA Name c.3634G>A 
Protein Name p.Val1212Ile 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name V1212I 
Other Details The V1212I mutation was detected as a second alteration in two Czech CF siblings who are [delta]F508 homozygotes. ASO analysis of 171 non-CF chromosomes did not detect this mutation on any tested chromosomes. 
Contributors Macek MJr, Davis CL, Hamosh A, Cutting GR   1993-05-18
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details The patient (male) was diagnosed at 23y, is PS, with mild lung disease and sweat chloride 90 mmol/l. Pseudomonas lung colonization is present and the patient is infertile. He is also DelF508 homozygous. (pers. corr. Macek) 
Reference Macek et al. (NL#55) 

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The Database was last updated at Apr 25, 2011