c.5649dup (p.Leu1884ThrfsX23)
Variant ID Exon dbSNP ID
13 Exon 41
Domains RNA effect Control frequency Controls origin
KID II,  CC XII RNA stability 0/>95 - 0/>115 not mentioned - ethnically matched
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This duplication creates a frame shift starting at codon Leu1884. The new reading frame ends in a STOP codon 22 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
F89 II-1 F89   Germany CORS yes no Exon 42 5649insA L1884fsX1906 Direct sequencing (Sanger) Exon 41 5515-5518delGAGA E1839fsX1849 Direct sequencing (Sanger)              
F9-1 F9   France CORS yes no Exon 41 c.5649 ins A L1884fsX1906 Direct sequencing (Sanger) Exon 42 c.5850 del T F1950fsX1964 Direct sequencing (Sanger) NM_001134831 c.2488 C>T R830W Direct sequencing (Sanger)
F9-2 F9   France CORS yes no c.5649 ins A L1884fsX1906 Direct sequencing (Sanger) c.5850 del T F1950fsX1964 Direct sequencing (Sanger)              
F358-1 F358   France JS + retina yes no Exon 41 c.5649 ins A L1884fsX1906 Direct sequencing (Sanger) Exon 17 c.1645 C>T R549X Direct sequencing (Sanger)              
F358-2 (first cousin of F358-1) F358   France SLS yes no c.5649 ins A L1884fsX1906 Direct sequencing (Sanger) c.4195-1 G>A abn transc Direct sequencing (Sanger)              
380 9   29 w (g) France ML yes unknown Exon 41 c.5649dupA p.Leu1884ThrfsX23 Direct sequencing (Sanger) Exon 42 c.5850delT p.Phe1950LeufsX15 Direct sequencing (Sanger)              
381 9   18 w (g) France ML yes unknown Exon 41 c.5649dupA p.Leu1884ThrfsX23 Direct sequencing (Sanger) Exon 42 c.5850delT p.Phe1950LeufsX15 Direct sequencing (Sanger)