c.6604del (p.Ile2202LeufsX24)
Variant ID Exon
44 Exon 48
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Ile2202. The new reading frame ends in a STOP codon 23 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
A3 15 years A3   15 y France LCA yes unknown Exon 48 c.6604delA p.Ile2203LeufsX23 DHPLC Exon 20 c.1936C>T p.Gln646X DHPLC
A3 13 years A3   13 y France LCA yes unknown Exon 48 c.6604delA p.Ile2203LeufsX23 DHPLC Exon 20 c.1936C>T p.Gln646X DHPLC
166 (1) 166   France LCA yes unknown Exon 48 c.6604del p.Ile2202LeufsX24 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
166 (2) 166   France LCA yes unknown Exon 48 c.6604del p.Ile2202LeufsX24 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
166 (3) 166   France LCA yes unknown Exon 48 c.6604del p.Ile2202LeufsX24 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
166 (4) 166   France LCA yes unknown Exon 48 c.6604del p.Ile2202LeufsX24 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
166 (5) 166   France LCA yes unknown Exon 48 c.6604del p.Ile2202LeufsX24 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)