c.5081T>C (p.Leu1694Pro)
| Variant ID | Exon |
| 190 | Exon 38 |
| Conservation score | Domains | RNA effect | Grantham score | Polyphen | Sift |
| 0.00 | CC XII | unknown | 98 |  |
|
| 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 |
| LCA-26 | LCA-26 | female | Belgium | LCA | yes | no | Exon 38 | c.5081T>C | p.Leu1694Pro | Direct sequencing (Sanger) | Exon 18 | c.1824G>A | p.= | Direct sequencing (Sanger) | |||