c.4114_4115del (p.Ile1372LysfsX5)
Variant ID Exon
140 Exon 32
Domains RNA effect EPP
CC IX unknown 3
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Ile1372. The new reading frame ends in a STOP codon 4 positions 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
6 S6   LCA unknown unknown Exon 32 del2 gaaAT Ile1372 Direct sequencing (Sanger)