Mutation Details for c.1823A>G
|
|
cDNA Name
|
c.1823A>G
|
|
Protein Name
|
p.Glu608Gly
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
E608G
|
|
Other Details
|
|
|
Contributors
|
Tolun A.
2002-01-01
|
|
Institute
|
Bogazici University Istanbul, Turkey
|
|
Submitted Phenotype Details
|
The male CF patient was diagnosed at 2 months of age. He is PI, has sweat chloride 85 mmol/l and severe lung disease. (pers.corr. Kilinc)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
