Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.531dupT
Protein Name
p.Gly178TrpfsX5
Exon or Intron
Other Details
Mutation found by NGS CFTR Devyser kit, confirmed with sanger sequencing.
Contributors and Institutes
mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Neocleous Vassos and Dr. Yiallouris Panayiotis – The Cyprus Institute of Neurology
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& Genetics, Nicosiam Cyprus, Prof. Milan Macek,Faculty Hospital Motol, Prague, Czech Republic
Submitted Phenotype Details
Patient from Cyprus. c.4200_4201delTG and c.489+3A>G the second allele.
Reference
To check if there are any papers published about this mutation/variant on PubMed, please click here.
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The Database was last updated at Apr 25, 2011
