c.5776C>T (p.Arg1926X)
Variant ID Exon
100 Exon 42
Domains RNA effect EPP
BP_NLS,  KID III,  CC XII RNA stability 3
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
1 S1   LCA unknown unknown Exon 42 CGA>TGA Arg1926STOP Direct sequencing (Sanger)