c.4656del (p.Glu1553LysfsX4)
Variant ID Exon dbSNP ID OMIM ID
6 Exon 35
Domains RNA effect Control frequency Controls origin
KID II,  CC XI 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 Glu1553. The new reading frame ends in a STOP codon 3 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
F63 II-1 F63   Germany CORS yes no Exon 36 4656delA K1552fsX1556 Direct sequencing (Sanger) Exon 41 G5668T G1890X Direct sequencing (Sanger)