Mutation Details for c.4243-1G>C
|
cDNA Name
|
c.4243-1G>C
|
Exon or Intron
|
intron 26
|
Legacy Exon or Intron
|
intron 23
|
|
4375-1G->C
|
Other Details
|
This mutation was found on the paternal CF chromosome from a patient with 3849+10kb C to T on the maternal CF allele.This mutation creates a Mae II site.
|
Contributors
|
Chevalier-Porst F,
Bozon D
1999-05-04
|
Institute
|
Hopital Debrousse,
Lyon, France
|
Submitted Phenotype Details
|
The mutation was found in a 19 years old male patient. No additional information available. (pers. corr. Bozon)
|
Reference
|
Chevalier-Porst & Bozon 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|