c.1593C>A (p.Tyr531X)
Variant ID Exon
33 Exon 16
Domains RNA effect
CC I RNA stability
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
Patient information Allele 1 Allele 2  
Patient ID Family ID Gender Age Origin Disease Segregation Parental consanguinity Consanguinity degree Exon/intron Nucleotide nomencl. Protein nomencl. Detection method Exon/intron Nucleotide nomencl. Protein nomencl. Detection method Reference
416   37 y France LCA unknown unknown Exon 16 c.1593C>A p.Tyr531X DHPLC Exon 1 c.2T>A p.Met1Lys DHPLC