c.5587-1G>C (p.?)
Variant ID Exon
27 Intron 40
Domains RNA effect NetGene2 BDGP
CC XII splicing change
This substitution is located in the acceptor splice site of intron 40. The consequence of this change is not predictable, but a skip of exon 41 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
695   28 y France LCA unknown unknown Intron 40 c.5587-1G>C ? DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC
290   15 y France LCA unknown unknown Intron 40 c.5587-1G>C ? DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC
797   36 y France LCA unknown unknown Intron 40 c.5587-1G>C ? DHPLC Exon 42 c.5850delT p.Phe1950LeufsX14 DHPLC
543   5 y France JS + retina unknown unknown Intron 40 c.5587-1G>C ? DHPLC Intron 17 c.1711+5G>A Splice DHPLC
LCA-JS-2 LCA-JS-2 male JS + retina yes no Intron 40 c.5587-1G>C p.? Direct sequencing (Sanger) Exon 31 c.3793C>T p.Gln1265X Direct sequencing (Sanger)