c.180+1G>T (p.?)
Variant ID Exon
22 Intron 3
Domains RNA effect NetGene2 BDGP
CC I splicing change
This substitution is located in the donor splice site of intron 3. The consequence of this change is not predictable, but a skip of exon 3 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
21918 21918 male Netherlands LCA yes no Intron 3 c.180+1G>T splice defect Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR