Variant ID	Exon
166	Exon 29

Domains	RNA effect
SMC,  CC VII	unknown

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

This duplication creates a frame shift starting at codon Leu1141. 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

LCA-13

LCA-13

female

Belgium

LCA

unknown

no

Exon 29

c.3422dup

p.Leu1141PhefsX5

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Direct sequencing (Sanger)