c.4115_4116del (p.Ile1372LysfsX5)
Variant ID Exon dbSNP ID
24 Exon 32
Domains RNA effect
CC IX RNA stability
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
27245 27245 male Canada LCA yes no Exon 32 c.4115_4116delTA p.Ile1372LysfsX4 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR
407 5   21 w (g) France MKS yes unknown Exon 32 c.4115_4116delTA p.Ile1372LysfsX5 Direct sequencing (Sanger) Exon 14 c.1219_1220delAT p.Met407GlufsX14 Direct sequencing (Sanger)