c.2249T>G (p.Leu750X)
Variant ID Exon OMIM ID
16 Exon 22
Domains RNA effect Control frequency Controls origin
CC III RNA stability 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
13168 13168   Germany LCA unknown unknown Exon 22 c.2249T>G p.Leu750X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR
F122 II-2 F122   Germany CORS yes no Exon 23 T2249G L750X DHPLC