c.2218-2A>C (p.?)
Variant ID Exon
178 Intron 21
RNA effect NetGene2 BDGP
splicing change
This substitution is located in the acceptor splice site of intron 21. The consequence of this change is not predictable, but a skip of exon 22 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-20 LCA-20 female Belgium LCA unknown no Intron 21 c.2218-2A>C p.? Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)