Mutation Details for c.1738G>A
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.1738G>A
|
|
Protein Name
|
p.Val580Ile
|
|
Exon or Intron
|
|
|
Other Details
|
Variant found by NGS CFTR Devyser, confirmed with sanger sequencing.
|
|
Contributors and Institutes
|
| mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague Czech Republic, Dr. Iustina Stan: | - | NSMC Alessandrescu Rusescu, Bucharest, Romania, Prof. Milan Macek,Faculty Hospital Motol, Prague Czech Republic |
|
|
Submitted Phenotype Details
|
Romanian patient-sweat test 64mmol/l. With c.254G>A on the second allele.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
