Mutation Details for c.3106delA
|
|
cDNA Name
|
c.3106delA
|
|
Protein Name
|
p.Thr1036LeufsX?
|
|
Exon or Intron
|
exon 19
|
|
Legacy Exon or Intron
|
exon 17a
|
|
|
3238delA
|
|
Other Details
|
This mutation was found in a Czech patient with the classical form of CF. The other mutation in trans is the large intragenic deletion dele2-3.
|
|
Contributors
|
Marie-Pierre Audrezet, Milan Macek Jr., Vera Vavrova, Dana Zemkova, Andrea Holubova, Claude Ferec
2005-07-13
|
|
Institute
|
ETSBO-Brest, France and Charles University Prague -
|
|
Submitted Phenotype Details
|
The female patient was diagnosed at the age of 4 months with mean sweat chloride concentrations of 77 mmol/L. She is pancreatic insufficient, has normal lung functions, CFLD is absent and is colonized by S. Aureus and H. influenze. Chest X-ray shows typical bronchiectases and atelectases.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
