Variant ID	Exon
168	Exon 31

Domains	RNA effect
CC IX	unknown

The mRNA produced might be targeted for nonsense mediated decay (NMD).

This deletion creates a frame shift starting at codon Thr1334. 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

LCA-14

LCA-14

female

Belgium; Morocco

LCA

yes

no

Exon 31

c.4001del

p.Thr1334IlefsX2

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Asper Ophthalmics LCA chip