c.4791_4794del (p.Lys1598SerfsX8)
Variant ID Exon
64 Exon 36
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Lys1598. The new reading frame ends in a STOP codon 7 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
MTI273 male 10 y Turkey CORS unknown yes Exon 36 4786_4790delTAAA S1595fsX1599 DHPLC Exon 36 4786_4790delTAAA S1595fsX1599 DHPLC