c.4965_4966del (p.Glu1656AsnfsX3)
Variant ID Exon
52 Exon 37
Domains RNA effect Control frequency Controls origin
CC XII 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 Glu1656. The new reading frame ends in a STOP codon 2 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
F72-1 F72   France CORS yes no Exon 37 c.49634964 del AG R1655fsX1659 Direct sequencing (Sanger) Intron 2 c.103-13 to -18 delGCTTTT pot abn transc Direct sequencing (Sanger)