c.5611_5614del (p.Gln1871ValfsX2)
Variant ID Exon
56 Exon 41
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Gln1871. The new reading frame ends in a STOP codon 1 position 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
MTI333a MTI333 male 3 y United States Of America JS + retina yes no Exon 41 5610delCAAA K1870fsX1872 DHPLC Exon 37 4882C>T Q1628X DHPLC
MTI333b MTI333 female 12 y United States Of America CORS yes no Exon 41 5610delCAAA K1870fsX1872 DHPLC Exon 37 4882C>T Q1628X DHPLC