Mutation Details for c.3829delA
|
|
cDNA Name
|
c.3829delA
|
|
Protein Name
|
p.Ile1277X
|
|
Exon or Intron
|
exon 23
|
|
Legacy Exon or Intron
|
exon 20
|
|
|
3960-3961delA
|
|
Other Details
|
Mutation is detected by TTGE and confirmed with sequencing.
|
|
Contributors
|
Alper Özgül; Wong LJC, Kharrazi M.,
2003-05-01
|
|
Institute
|
Institute for Molecular and Human Genetics, Georgetown University Medical Center
|
|
Submitted Phenotype Details
|
The Hispanic male patient diagnosed at 5 months of age, pancreatic insufficient, sweat chloride level was 100mmol/L; FEV 83%; FVC 96%, colonized with Pseudomonas aeruginosa, Aspergillus terretus. The other mutant allele is unidentified.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
