Mutation Details for c.1897C>A
|
|
cDNA Name
|
c.1897C>A
|
|
Protein Name
|
p.Leu633Ile
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
L633I
|
|
Other Details
|
This mutation was detected by exon 13 sequencing in a Portuguese patient where no other mutation was identified, although the entire gene (exons and intronic boundaries) was analysed by DGGE and/or sequencing.
|
|
Contributors
|
Pacheco P, Loureiro P, Vaz L.
2006-05-12
|
|
Institute
|
Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal
|
|
Submitted Phenotype Details
|
This mutation was detected in Portuguese male patient diagnosed with CF at 7 years of age with: growth delay, pancreatic insufficiency, FEV 52%, FVC 80%. Sweat tests in different years were: 1border-line, 1 positive and 1 negative. Presently with 16 years, the patient is not a typical CF case, having a great growth delay.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
