c.5515_5518del (p.Glu1839LysfsX11)
Variant ID Exon dbSNP ID
12 Exon 40
Domains RNA effect Control frequency Controls origin
CC XII RNA stability 0/>95 not mentioned
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Glu1839. 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
F89 II-1 F89   Germany CORS yes no Exon 41 5515-5518delGAGA E1839fsX1849 Direct sequencing (Sanger) Exon 42 5649insA L1884fsX1906 Direct sequencing (Sanger)