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)