c.1645C>T (p.Arg549X)
Variant ID Exon
73 Exon 17
RNA effect Control frequency Controls origin
RNA stability 0/>115 ethnically matched
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
F358-1 F358   France JS + retina yes no Exon 17 c.1645 C>T R549X Direct sequencing (Sanger) Exon 41 c.5649 ins A L1884fsX1906 Direct sequencing (Sanger)