Mutation Details for c.413_415dupTAC
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.413_415dupTAC
|
|
Protein Name
|
p.Leu138dup
|
|
Exon or Intron
|
|
|
Other Details
|
|
|
Contributors and Institutes
|
| Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Halyna Makukh, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic | - | |
|
|
Submitted Phenotype Details
|
Ukrainian patient, 621+ 1G>T on the second alelle
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
