Mutation Details for c.1679+1G>C

cDNA Name c.1679+1G>C 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1811+1G->C 
Other Details The mutation was detected by DGGE, followed by direct sequencing of amplified DNA. It can also be detected by Alul digestion. The mutation was found in a Cystic Fibrosis patient of Macedonian ethnic group whose other chromosome carries the [delta]F508 mutation. The mutation was found once among 42 non-[delta] CF chromosomes. 
Contributors Petreska L, Koceva S, Efremov GD   1992-10-10
Institute Macedonian Academy of Sciences and Arts Skopje, Republic of Macedonia 
Submitted Phenotype Details The patient (2y at the time of genetic analysis) was diagnosed at 2 months of age. The patient is PI, has sweat chloride 240 mmol/l, bilateral bronchopneumonia, emphysema and Pseudomonas Aeruginosa colonization. The patient carries deltaF508 on the other allele.(Petreska et al. 1996) 
Reference Petreska et al. (NL#50) 

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