c.164_167del (p.Thr55SerfsX3)
Variant ID Exon
93 Exon 3
Domains RNA effect Control frequency Controls origin
TM III RNA stability 0/94 Central Europe, Middle East, East Asia and US
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Thr55. The new reading frame ends in a STOP codon 2 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
A1332 II-1 A1332 male Syria CORS unknown yes Exon 3 164_167del CTCA T55fsX57 DHPLC