Variant ID	Exon
172	Exon 40

Domains	RNA effect
CC XII	unknown

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

This deletion creates a frame shift starting at codon Lys1840. 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-17

LCA-17

male

Belgium

LCA

yes

no

Exon 40

c.5519_5537del

p.Lys1840ArgfsX5

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Direct sequencing (Sanger)