c.1859_1862del (p.Arg621IlefsX2)
Variant ID Exon
28 Exon 19
Domains RNA effect
CC II RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Arg621. The new reading frame ends in a STOP codon 1 position downstream.
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
654   4 y France LCA unknown unknown Exon 19 c.1855-1858delAAAG p.Lys619LysfsX3 DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC
LCA-12 LCA-12 male Netherlands LCA unknown no Exon 19 c.1859_1862del p.Arg621IlefsX2 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Asper Ophthalmics LCA chip