c.1936C>T (p.Gln646X)
Variant ID Exon
43 Exon 20
Domains RNA effect
CC II 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
A3 15 years A3   15 y France LCA yes unknown Exon 20 c.1936C>T p.Gln646X DHPLC Exon 48 c.6604delA p.Ile2203LeufsX23 DHPLC
A3 13 years A3   13 y France LCA yes unknown Exon 20 c.1936C>T p.Gln646X DHPLC Exon 48 c.6604delA p.Ile2203LeufsX23 DHPLC