c.5932C>T (p.Arg1978X)
Variant ID Exon
95 Exon 43
Domains RNA effect Control frequency Controls origin
CC XII RNA stability 0/94 Central Europe, Middle East, East Asia and US
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
  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
F848 II-1 F848 male Italy SLS unknown no Exon 44 C5932T R1978X DHPLC NM_015102 C1880T T627M Direct sequencing (Sanger)