c.4966G>T (p.Glu1656X)
Variant ID Exon dbSNP ID
25 Exon 37
Domains RNA effect EPP
CC XII RNA stability 3
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
27246 27246 male Canada LCA yes no Exon 37 c.4966G>T p.Glu1656X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR