c.1682_1683del (p.Gln561ArgfsX14)
Variant ID Exon
57 Exon 17
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Gln561. The new reading frame ends in a STOP codon 13 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
COR109 female 6 y France JS + retina unknown no Exon 17 1682_1683delA A560fsX572 DHPLC Exon 31 3814C>T R1272X DHPLC