c.3310-1_3310delinsAA (p.?)
Variant ID Exon
180 Intron 28
RNA effect NetGene2 BDGP
splicing change
This delins alters the acceptor splice site of exon 29. The consequence of this change is not predictable, but a skip of exon 29 is very likely.
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-23 LCA-23 female Belgium LCA unknown no Intron 28 c.3310-1_3310delinsAA p.? Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)  
LCA-22 LCA-22 male Belgium LCA unknown no Intron 28 c.3310-1_3310delinsAA p.? Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)  
LCA-21 LCA-21 male Belgium LCA yes no Intron 28 c.3310-1_3310delinsAA p.? Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)