c.1666del (p.Ile556PhefsX17)
Variant ID Exon
54 Exon 17
Domains RNA effect
CC I RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Ile556. The new reading frame ends in a STOP codon 16 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
COR145 male 2 y United Kingdom JS + retina unknown no Exon 17 1657_1666delA L552fsX572 DHPLC Exon 44 6031C>T R2011X DHPLC