Mutation Details for c.743G>A
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.743G>A
|
|
Protein Name
|
p.Arg248Lys
|
|
Exon or Intron
|
|
|
Other Details
|
Mutation found by NGS CFTR kit, confirmed by sanger sequencing
|
|
Contributors and Institutes
|
| mgr Malgorzata Libik PhD, Faculty Hospital Motol,Czech Republic, Prof. Eman Fouda Ain Shams University,Egypt, Prof. Milan Macek, Faculty Hospital Motol, Czech Republic | - | |
|
|
Submitted Phenotype Details
|
Egyptian patient, heterozygote for mutation c.743G>A
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
