c.1260_1264del (p.Lys421GlyfsX2)
Variant ID Exon OMIM ID
79 Exon 14
Domains RNA effect EPP
CC I RNA stability 3
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Lys421. The new reading frame ends in a STOP codon 1 position 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
P7 male 26 y LCA unknown unknown Exon 14 c.1260_1264delTAAAG p.T420fs Intron 26 c.2991+1655A>G Splice defect
4 S4   LCA unknown unknown Exon 14 del5 acTAAAG Thr420 Direct sequencing (Sanger)