Mutation Details for c.3540delA
|
|
cDNA Name
|
c.3540delA
|
|
Protein Name
|
p.Lys1180AsnfsX12
|
|
Exon or Intron
|
exon 22
|
|
Legacy Exon or Intron
|
exon 19
|
|
|
3670delA
|
|
Other Details
|
This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix.
It was found in two CF patients, homozygotes for the mutation. Both patients presented with severe lung disease and pancreatic insufficiency. Sweat chlorides were 110 and 112.
|
|
Contributors
|
Zielenski J,
Aznarez I,
Tsui L-C
Rawashdeh M,
Khateeb
1999-06-07
|
|
Institute
|
The Hospital for Sick Children
Toronto, Canada
Jordan University of Science &
Technology
Aman, Jordan
|
|
Submitted Phenotype Details
|
No additional clinical data available. See original note. (pers. corr. Zielenski)
|
|
Reference
|
Zielenski et al. 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
