Mutation Details for c.2909-4A>G
|
cDNA Name
|
c.2909-4A>G
|
Exon or Intron
|
intron 17
|
Legacy Exon or Intron
|
intron 15
|
|
3041-4A->G
|
Other Details
|
|
Contributors
|
Ferec C.
2002-01-01
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique Brest, France
|
Submitted Phenotype Details
|
The mutation was found in a male patient with CBAVD, carrying L973P on the same chromosome and 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.
|
|
|
|