Mutation Details for c.1532C>G
|
|
cDNA Name
|
c.1532C>G
|
|
Protein Name
|
p.Ser511Cys
|
|
Exon or Intron
|
exon 11
|
|
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 was detected by DGGE and identified by direct sequencing, while screening a female of Greek origin (general population).
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
