c.5865_5867delinsGG (p.Glu1956GlyfsX9)
Variant ID Exon
174 Exon 43
Domains RNA effect
CC XII unknown
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This delins creates a frame shift starting at codon Glu1956. The new reading frame ends in a STOP codon 8 positions 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
LCA-18 LCA-18 male Belgium LCA yes no Exon 43 c.5865_5867delinsGG p.Glu1956GlyfsX9 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)