Mutation Details for c.3717+40A>G
|
|
cDNA Name
|
c.3717+40A>G
|
|
Exon or Intron
|
intron 22
|
|
Legacy Exon or Intron
|
intron 19
|
|
|
3849+40A->G
|
|
Other Details
|
|
|
Contributors
|
Ferec C.
2002-01-01
|
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique Brest, France
|
|
Submitted Phenotype Details
|
The French male CF patient (10y) was diagnosed at 3y. He has moderate lung disease, sweat chloride 76-65 mmol/l and carries deltaF508 on the other allele. (pers.corr. Ferec)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
