c.1219_1220del (p.Met407GlufsX14)
Variant ID Exon
32 Exon 14
RNA effect EPP
RNA stability 3
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Met407. The new reading frame ends in a STOP codon 13 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
552   1 y 1 m Italy LCA unknown unknown Exon 14 c.1219_1220delAT p.Met407GlufsX13 DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC
407 5   21 w (g) France MKS yes unknown Exon 14 c.1219_1220delAT p.Met407GlufsX14 Direct sequencing (Sanger) Exon 32 c.4115_4116delTA p.Ile1372LysfsX5 Direct sequencing (Sanger)
A1   Italy LCA yes unknown c.1219–1220delAT p.H406fsX420 DHPLC Intron 26 c.2991+1655A>G p.C998X DHPLC
3 S3   LCA unknown unknown Exon 14 del2 cAT His406 Direct sequencing (Sanger)