c.6277del (p.Val2093SerfsX4)
Variant ID Exon
63 Exon 46
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Val2093. 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
MTI328 male 8 y United States Of America CORS unknown no Exon 46 6277delG V2092fsX2096 DHPLC Exon 20 1985A>T Q662X DHPLC