Mutation Details for c.3921T>A
|
|
cDNA Name
|
c.3921T>A
|
|
Protein Name
|
p.Tyr1307X
|
|
Exon or Intron
|
exon 24
|
|
Legacy Exon or Intron
|
exon 21
|
|
|
Y1307X
|
|
Other Details
|
This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix.
It was found in one Native Canadian CF patient (second mutation: R555G).
|
|
Contributors
|
Zielenski J,
Tzountzouris J,
Tsui L-C,
Montgomery M
1999-03-04
|
|
Institute
|
The Hospital for Sick Children,
Toronto, Canada
Alberta Children's Hospital,
Calgary, Canada
|
|
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.
|
|
|
|
|
