c.287del (p.Asn96MetfsX29)
Variant ID Exon
78 Exon 5
Domains RNA effect Control frequency Controls origin
CC I RNA stability 0/>115 ethnically matched
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Asn96. The new reading frame ends in a STOP codon 28 positions downstream.
  CEP290 Additional gene 1
Patient information Allele 1 Allele 2   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 Gene Nucleotide nomencl. Protein nomencl. Detection method Nucleotide nomencl. Protein nomencl. Detection method
F265-1 F265 male France JS + retina yes no Exon 5 c.287 del A N96fsX124 Direct sequencing (Sanger) NM_000272 deletion no transc other deletion no transc other
F265-2 (sister of F265-1) F265 female France SLS yes no Exon 5 c.287 del A N96fsX124 Direct sequencing (Sanger) NM_000272 deletion no transc other deletion no transc other