c.4661_4663del (p.Glu1554del)
Variant ID Exon
41 Exon 35
Domains RNA effect
CC XII identical to DNA mutation
This deletion causes the loss of residue Glu1554.
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
800   28 y France LCA unknown unknown Exon 35 c.4661_4663delAAG p.Glu1554del DHPLC Exon 42 c.5850delT p.Phe1950LeufsX14 DHPLC