c.5046del (p.Val1683X)
Variant ID Exon
99 Exon 38
RNA effect
RNA stability
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion interrupts the reading frame prematurely: codon Val1683 is replaced by a STOP codon.
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
A141   Italy LCA yes unknown Exon 38 c.5041–5046delA p.V1680FSX1683 DHPLC Intron 26 c.2991+1655A>G p.C998X DHPLC