c.1711+5A>G (p.?)
Variant ID Exon
42 Intron 17
RNA effect NetGene2 BDGP
splicing change
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
543   5 y France JS + retina unknown unknown Intron 17 c.1711+5G>A Splice DHPLC Intron 40 c.5587-1G>C ? DHPLC