c.5734del (p.Trp1912GlyfsX11)
Variant ID Exon
61 Exon 42
Domains RNA effect Control frequency Controls origin
CC XII 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 Trp1912. The new reading frame ends in a STOP codon 10 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
COR004a COR004 female 17 y Italy CORS yes no Exon 42 5734delT R1911fsX1922 DHPLC Exon 31 3811C>T R1271X DHPLC
COR004b COR004 male 7 y Italy CORS yes no Exon 42 5734delT R1911fsX1922 DHPLC Exon 31 3811C>T R1271X DHPLC
A372 II-1 A372   Italy CORS yes no Exon 43 5734delT W1912fsX1923 DHPLC Exon 32 C3811T R1271X DHPLC
A372 II-2 A372   Italy CORS yes no Exon 43 5734delT W1912fsX1923 DHPLC Exon 32 C3811T R1271X DHPLC