Mutation Details for c.3274T>C

cDNA Name c.3274T>C 
Protein Name p.Tyr1092His 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name Y1092H 
Other Details The Y1092H mutation was seen on 1 Caucasian chromosome in US. ASO analysis revealed that this alteration was not present on 100 non-CF Caucasian chromosomes. This mutation was found in a 9 year old patient with a diagnosis of asthma. Sweat testing was borderline with values of 58 and 52. Tests were negative for staph and pseudomonas. The mutation was found after screening of 16 common mutations ([delta]F508, R117H, W1282X, 621+1G->T, R334W, R347P, A445E, [delta]I507, 1717-1G->A, G542X, S549N, G551D, R553X, R560T, N1303K, 3849+10kbC->T) by reverse dot blot and 4 exons by DGGE. It is yet to be determined if a second CF mutation will be found. 
Contributors Egan M M, Zhang J, Cutting G R   1997-01-11
Institute Center for Medical Genetics, John Hopkins Hospital Baltimore MD 
Submitted Phenotype Details  
Reference Egan et al. (NL#69) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011