c.1361del (p.Gly454GlufsX5)
Variant ID Exon
75 Exon 15
Domains RNA effect Control frequency Controls origin
CC I RNA stability 0/>115 ethnically matched
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Gly454. The new reading frame ends in a STOP codon 4 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
F375-1 F375   France CORS yes no Exon 15 c.1361 del G G454fsX458 Direct sequencing (Sanger) Exon 50 c.6869 del A N2290fsX2300 Direct sequencing (Sanger)