c.5256_5257del (p.Ala1753ArgfsX7)
Variant ID Exon
45 Exon 39
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Ala1753. The new reading frame ends in a STOP codon 6 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
105 11 yrs 105   11 y France LCA yes unknown Exon 32 c.5255-5256delGG p.Arg1752ArgfsX7 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
105 1 yrs 105   1 y France LCA yes unknown Exon 32 c.5255-5256delGG p.Arg1752ArgfsX7 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)