c.2251C>T (p.Arg751X)
Variant ID Exon
71 Exon 22
Domains RNA effect Control frequency Controls origin
CC III RNA stability 0/>115 ethnically matched
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
F99-1 F99   Italy CORS unknown no Exon 22 c.2251 C>T R751X Direct sequencing (Sanger) Exon 50 c.6869 del A N2290fsX2300 Direct sequencing (Sanger)