c.3793C>T (p.Gln1265X)
Variant ID Exon
86 Exon 31
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
387 7   27 w (g) France ML yes unknown Exon 31 c.3793C>T p.Gln1265X Direct sequencing (Sanger) Exon 26 c.2906dupA p.Tyr969X Direct sequencing (Sanger)
LCA-JS-2 LCA-JS-2 male JS + retina yes no Exon 31 c.3793C>T p.Gln1265X Direct sequencing (Sanger) Intron 40 c.5587-1G>C p.? Direct sequencing (Sanger)