Mutation Details for c.2994_2997delATTA
|
|
cDNA Name
|
c.2994_2997delATTA
|
|
Protein Name
|
p.Ile1000X
|
|
Exon or Intron
|
exon 19
|
|
Legacy Exon or Intron
|
exon 17a
|
|
|
3126del4
|
|
Other Details
|
This mutation was found in one CF patient with E60X on the other allele. This patient's sweat chloride level was 100 meq/l; pancreatic insufficiency and moderate lung disease.
|
|
Contributors
|
Zielenski J,
Tzountzouris J,
Tsui L-C,
Bjorck E,
Strandvik B,
Wahlstrom J
1998-03-18
|
|
Institute
|
The Hospital for Sick Children,
Toronto, Canada
Sahlgrenska University Hospital
East Gothenberg, Sweden
|
|
Submitted Phenotype Details
|
No additional clinical data available. See original note. (pers. corr. Zielenski)
|
|
Reference
|
Zielenski et al. (NL#70)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
