Mutation Details for c.4137-108A>G
|
|
cDNA Name
|
c.4137-108A>G
|
|
Exon or Intron
|
intron 25
|
|
Legacy Exon or Intron
|
intron 22
|
|
|
4269-108A->G
|
|
Other Details
|
This substitution creates a BfrI site.
|
|
Contributors
|
Chevalier-Porst F,
Bozon D
1999-05-04
|
|
Institute
|
Hopital Debrousse,
Lyon, France
|
|
Submitted Phenotype Details
|
4269-108A->G was found in a male patient born in 1991, diagnosed at 3 months, with severe lung disease, positive sweat chloride, also carrying deltaF508 on the other allele.(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.
|
|
|
|
|
