c.4962_4963del (p.Glu1656AsnfsX3)
Variant ID Exon
49 Exon 37
RNA effect EPP
RNA stability 3
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Glu1656. The new reading frame ends in a STOP codon 2 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
389   Belgium LCA unknown unknown Exon 37 c.4962_4963delAA p.Gln1654GlnfsX4 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
8 S8   LCA unknown unknown Exon 37 del2 cAA Gln1654 Direct sequencing (Sanger)