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Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
Mouse CFTR Genomic Sequence
Frequently Asked Questions
Mutation Details for c.531dupT
Note: this mutation was submitted but not yet reviewed by our curator.
Exon or Intron
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
& 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.
To check if there are any papers published about this mutation/variant on PubMed, please
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The Database was last updated at Apr 25, 2011