Mutation Details for c.1894_1895delGA
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.1894_1895delGA
|
|
Protein Name
|
p.Glu632ThrfsX9
|
|
Exon or Intron
|
|
|
Other Details
|
|
|
Contributors and Institutes
|
| Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Iustina Stan,NSMC Alessandrescu Rusescu, Bucharest, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic | - | |
|
|
Submitted Phenotype Details
|
Romanian patient born 2015, sweat test 92mmol/L, W1282X on the second allele.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
