c.6331C>T (p.Gln2111X)
Variant ID Exon dbSNP ID
14 Exon 46
Domains RNA effect Control frequency Controls origin
CC XIII,  KID II RNA stability 0/>95 not mentioned
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
F91 II-1 F91   Germany CORS de novo no Exon 47 C6331T Q2111X Direct sequencing (Sanger)