c.566C>G (p.Ser189X)
Variant ID Exon
98 Exon 9
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
A4   Italy LCA yes unknown c.566C>G p.S189X DHPLC Intron 26 c.2991+1655A>G p.C998X DHPLC