c.5226+1G>A (p.?)
Variant ID Exon
29 Intron 38
Domains RNA effect NetGene2 BDGP
CC XII splicing change
This substitution is located in the donor splice site of intron 38. The consequence of this change is not predictable, but a skip of exon 38 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
798   11 y France LCA unknown unknown Intron 38 c.5226+1G>A ? DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC