c.5850del (p.Phe1950LeufsX15)
Variant ID Exon
40 Exon 42
Domains RNA effect Control frequency Controls origin
CC XII 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 Phe1950. The new reading frame ends in a STOP codon 14 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
797   36 y France LCA unknown unknown Exon 42 c.5850delT p.Phe1950LeufsX14 DHPLC Intron 40 c.5587-1G>C ? DHPLC              
800   28 y France LCA unknown unknown Exon 42 c.5850delT p.Phe1950LeufsX14 DHPLC Exon 35 c.4661_4663delAAG p.Glu1554del DHPLC              
334   9 y France LCA unknown unknown Exon 42 c.5850delT p.Phe1950LeufsX14 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)              
F9-1 F9   France CORS yes no Exon 42 c.5850 del T F1950fsX1964 Direct sequencing (Sanger) Exon 41 c.5649 ins A L1884fsX1906 Direct sequencing (Sanger) NM_001134831 c.2488 C>T R830W Direct sequencing (Sanger)
F9-2 F9   France CORS yes no c.5850 del T F1950fsX1964 Direct sequencing (Sanger) c.5649 ins A L1884fsX1906 Direct sequencing (Sanger)              
380 9   29 w (g) France ML yes unknown Exon 42 c.5850delT p.Phe1950LeufsX15 Direct sequencing (Sanger) Exon 41 c.5649dupA p.Leu1884ThrfsX23 Direct sequencing (Sanger)              
381 9   18 w (g) France ML yes unknown Exon 42 c.5850delT p.Phe1950LeufsX15 Direct sequencing (Sanger) Exon 41 c.5649dupA p.Leu1884ThrfsX23 Direct sequencing (Sanger)