c.3814C>T (p.Arg1272X)
Variant ID Exon dbSNP ID
19 Exon 31
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).
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
17971 17971 female Netherlands LCA yes no Exon 31 c.3814C>T p.Arg1272X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR
COR109 female 6 y France JS + retina unknown no Exon 31 3814C>T R1272X DHPLC Exon 17 1682_1683delA A560fsX572 DHPLC