c.265dup (p.Thr89AsnfsX2)
Variant ID Exon dbSNP ID
21 Exon 5
Domains RNA effect
CC I RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This duplication creates a frame shift starting at codon Thr89. 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
21393 21393 female Netherlands LCA yes no Exon 5 c.265dupA p.Thr89AsnfsX1 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR