c.3176del (p.Ile1059LysfsX6)
Variant ID Exon
4 Exon 28
Domains RNA effect Control frequency Controls origin
KID II,  CC XII RNA stability 0/150 Italy and Asia
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Ile1059. The new reading frame ends in a STOP codon 5 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
MK05 II:2 MK05 female 3 y Turkey CORS yes yes Exon 28 3176delT I1059fsX1064 Direct sequencing (Sanger) Exon 28 3176delT I1059fsX1064 Direct sequencing (Sanger)