Mutation Details for c.1680-5T>A
|
|
cDNA Name
|
c.1680-5T>A
|
|
Exon or Intron
|
intron 12
|
|
Legacy Exon or Intron
|
intron 11
|
|
|
1812-5 T->A
|
|
Other Details
|
We have scanned the entire coding sequences of the CF gene with DHPLC and have seen it only once, in over 2500 control chromosomes from Italian population.
|
|
Contributors
|
Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-18
|
|
Institute
|
Lab. Genetica Molecolare Dip Pediatria, Padova,Italy
|
|
Submitted Phenotype Details
|
The change was found in the asymptomatic husband, from North-East Italy, of a CF carrier. He carries R75Q on the other allele.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
