c.4696G>C (p.Ala1566Pro)
| Variant ID | Exon |
| 188 | Exon 35 |
| Conservation score | Domains | RNA effect | Grantham score | Polyphen | Sift |
| 1.00 | CC XI | unknown | 27 |  |
|
| 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-25 | LCA-25 | male | Belgium | LCA | yes | no | Exon 35 | c.4696G>C | p.Ala1566Pro | Direct sequencing (Sanger) | Exon 36 | c.4723A>T | p.Lys1575X | Direct sequencing (Sanger) | |||