c.5434_5435del (p.Glu1812LysfsX5)
Variant ID Exon
65 Exon 40
Domains RNA effect
CC XII RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Glu1812. The new reading frame ends in a STOP codon 4 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
COR125 female 10 y United Kingdom CORS unknown no Exon 40 5431_5433delGA N1810fsX1816 DHPLC Exon 41 5668G>T G1890X DHPLC