c.3292G>T (p.Glu1098X)
Variant ID Exon
48 Exon 28
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
382   10 y Italy LCA unknown unknown Exon 28 c.3292G>T p.Glu1098X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
A12   Italy LCA yes unknown c.3292G>T p.E1098X DHPLC c.2991+1655A>G p.C998X DHPLC