c.451C>T (p.Arg151X)
Variant ID Exon
227 Exon 7
Domains RNA effect Functional effect Control frequency Controls origin NetGene2 BDGP
CC I splicing change nonsense associated altered splicing 0/91 Dutch
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
18871 W02-004 male 12 y Netherlands LCA yes no Exon 7 c.451C>T p.Arg151X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)