c.1709C>G (p.Ser570X)
Variant ID Exon
39 Exon 17
RNA effect
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
809   2 y France LCA unknown no Exon 17 c.1709C>G p.Ser570X DHPLC Exon 36 c.4723A>T p.Lys1575X DHPLC