Mutation Details for c.1006A>C
|
cDNA Name
|
c.1006A>C
|
Protein Name
|
p.Ile336Leu
|
Exon or Intron
|
exon 8
|
Other Details
|
|
Contributors and Institutes
|
Myrto Poulou | - | Department of Medical Genetics, Athens University | Emmanuel Kanavakis | - | Department of Medical Genetics, Athens University | Maria Tzetis | - | Department of Medical Genetics, Athens University |
|
Submitted Phenotype Details
|
This change has been identified through DGGE and direct sequencing, while screening a member of general population. No other change was identified after screening all the coding regions
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|