c.2T>A (p.Met1?)
Variant ID Exon
34 Exon 2 - CDS
RNA effect
unknown
Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable.
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
416   37 y France LCA unknown unknown Exon 1 c.2T>A p.Met1Lys DHPLC Exon 16 c.1593C>A p.Tyr531X DHPLC