Mutation Details for c.1680-1G>A
|
|
cDNA Name
|
c.1680-1G>A
|
|
Exon or Intron
|
intron 12
|
|
Legacy Exon or Intron
|
intron 11
|
|
|
1812-1G->A
|
|
Other Details
|
This mutation has been detected by SSCP analysis, followed by direct sequencing and it can be detected by restriciotn enzyme analysis because is creates a DraI site. Mutation 1812-1G->A was found in 1/50 unrelated Spanish CF non-[delta]F508 chromosomes. The mutation on the other chromosome is 3600-111G->C.
|
|
Contributors
|
Chillon M,
Nunes V,
Casals T,
Estivill X
1993-01-18
|
|
Institute
|
Institut de Recerca Oncologica
Barcelona, Spain
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Chillón et al. 1994
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
