Mutation Details for c.(?_3964)_(*1553_?)del
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.(?_3964)_(*1553_?)del
|
|
Exon or Intron
|
exon 25 - exon 27
|
|
Legacy Exon or Intron
|
exon 22 - exon 24
|
|
|
Del exon 22-24
|
|
Other Details
|
The proband harbors also the dF508 mutation.
|
|
Contributors
|
Hantash FM, Redman JB. et al. Abs. Ann. Mtg ASHG. Toronto 2004. # 2660.
2005-02-10
|
|
Institute
|
Quest Diagnostics Nichols Institute. San Juan Capistrano, CA.
|
|
Submitted Phenotype Details
|
a twenty-one month old male patient displaying classic CF symptoms, Sweat chloride test 113 mM
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
