c.2218-15_2220del (p.?)
Variant ID Exon
101 Exon 22
Domains RNA effect EPP NetGene2 BDGP
CC III splicing change 3
This deletion alters the acceptor splice site of exon 22. 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
2 S2   LCA unknown unknown Exon 22 del18 gGATTTTTTTTTCCAGATA IVS21-15 Direct sequencing (Sanger)