c.4882C>T (p.Gln1628X)
Variant ID Exon
46 Exon 37
RNA effect EPP Control frequency Controls origin
RNA stability 3 0/94 Central Europe, Middle East, East Asia and US
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
247   2 y France LCA unknown unknown Exon 37 c.4882C>T p.Gln1628X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
MTI333a MTI333 male 3 y United States Of America JS + retina yes no Exon 37 4882C>T Q1628X DHPLC Exon 41 5610delCAAA K1870fsX1872 DHPLC
MTI333b MTI333 female 12 y United States Of America CORS yes no Exon 37 4882C>T Q1628X DHPLC Exon 41 5610delCAAA K1870fsX1872 DHPLC
COR084 female 6 y Russian Federation CORS unknown no Exon 37 4882C>T Q1628X DHPLC Exon 43 5941G>T E1981X DHPLC
P3 male 14 y LCA unknown unknown c.4882C>T p.Q1628X Intron 26 c.2991+1655A>G Splice defect
A989 II-1 A989   Switzerland CORS unknown no Exon 38 C4882T Q1628X DHPLC Exon 44 G5941T E1981X DHPLC