Mutation Details for c.79G>C
|
|
cDNA Name
|
c.79G>C
|
|
Protein Name
|
p.Gly27Arg
|
|
Exon or Intron
|
exon 2
|
|
Legacy Exon or Intron
|
exon 2
|
|
|
G27R(211G to C)
|
|
Other Details
|
This mutation was identified on one Czech CF chromosome
|
|
Contributors
|
Herova M, Soldatova I, Krepelova A, Vavrova V, Bartosova J, Holubova A, Libik M, Macek Jr. M
2005-03-29
|
|
Institute
|
Institute of Biology and Medical Genetics
Cystic Fibrosis Center, University Hospital Motol, Prague
|
|
Submitted Phenotype Details
|
Czech CF female patient (current age 7 years) was diagnosed at 3 months of life, presenting with metabolic failure. She had repeated rectal prolapse at the age of 2 B= years. Her sweat chloride concentrations were 73 and 84 mmol/l and she bears F508del on the second CF chromosome
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
