Mutation Details for c.2467G>T
|
|
cDNA Name
|
c.2467G>T
|
|
Protein Name
|
p.Glu823X
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
E823X
|
|
Other Details
|
This mutation was detected by DGGE and direct sequencing.
E823X was found in a male CF patient whose parent's origin is from Syria. The patient's other mutation is unknown.
|
|
Contributors
|
Tzetis M,
Antoniadi Th,
Kanavakis E
1998-02-02
|
|
Institute
|
St. Sophia's Children's Hospital,
Athens, Greece
|
|
Submitted Phenotype Details
|
The mutation was found in a 12 years old male patient, PI, with FEV1 66% and chronic cough, sweat chloride 120 mmol/l, DIOS and cirrhosis. He carries 3120+1kbdel8.6kb on the other allele. (pers. corr. Tzetis)
|
|
Reference
|
Tzetis et al. (NL#70)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
