c.5941G>T (p.Glu1981X)
Variant ID Exon
58 Exon 43
Domains RNA effect Control frequency Controls origin
CC XII RNA stability 0/94 Central Europe, Middle East, East Asia and US
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
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
COR084 female 6 y Russian Federation CORS unknown no Exon 43 5941G>T E1981X DHPLC Exon 37 4882C>T Q1628X DHPLC
A989 II-1 A989   Switzerland CORS unknown no Exon 44 G5941T E1981X DHPLC Exon 38 C4882T Q1628X DHPLC