c.322C>T (p.Arg108X)
| Variant ID | Exon |
| 146 | Exon 6 |
| Domains | RNA effect |
| CC I | unknown |
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
| CEP290 | Additional gene 1 | |||||||||||||||||||||||
| Patient information | Allele 1 | Allele 2 | 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 | Gene | Nucleotide nomencl. | Protein nomencl. | Detection method | Nucleotide nomencl. | Protein nomencl. | Detection method |
| LCA-3 | LCA-3 | male | Belgium | LCA | yes | no | Exon 6 | c.322C>T | p.Arg108X | Direct sequencing (Sanger) | Intron 26 | c.2991+1655A>G | p.Cys998X | Asper Ophthalmics LCA chip | NM_001134831 | c.2273A>C | p.His758Pro | Direct sequencing (Sanger) | ||||||