c.679_680del (p.Glu227SerfsX2)
Variant ID Exon dbSNP ID
20 Exon 10
Domains RNA effect
TM I,  CC I RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Glu227. The new reading frame ends in a STOP codon 1 position downstream.
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
20152 20152   Netherlands LCA unknown unknown Exon 10 c.679_680delGA p.Glu227SerfsX1 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR