c.5722G>T (p.Glu1908X)
Variant ID Exon
66 Exon 42
Domains RNA effect
CC XII 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
MTI487 female 10 y Turkey JS + retina unknown yes Exon 42 5722G>T E1908X DHPLC Exon 42 5722G>T E1908X DHPLC