c.6870del (p.Gln2291LysfsX10)
Variant ID Exon
70 Exon 50
Domains RNA effect
CC XIII RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Gln2291. The new reading frame ends in a STOP codon 9 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
COR002a COR002 male 34 y Italy CORS yes no Exon 50 6870delT N2290fsX2300 DHPLC
COR002b COR002 male 30 y Italy CORS yes no Exon 50 6870delT N2290fsX2300 DHPLC