c.1910-2A>C (p.?)
Variant ID Exon
206 Intron 19
RNA effect NetGene2 BDGP
splicing change
This substitution is located in the acceptor splice site of intron 19. The consequence of this change is not predictable, but a skip of exon 20 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
355   1 y 6 m France LCA unknown unknown Intron 19 c.1910-2A>G Splice Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)