c.2118_2122dup (p.Thr709SerfsX9)
Variant ID Exon dbSNP ID
17 Exon 21
Domains RNA effect
CC III RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This duplication creates a frame shift starting at codon Thr709. The new reading frame ends in a STOP codon 8 positions 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
15103 15103   Germany LCA unknown unknown Exon 21 c.2118_2122dupTCAGC p.Thr709SerfsX8 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR