Variant ID	Exon
158	Exon 39

Domains	RNA effect
CC XII	unknown

The reading frame is interrupted by a premature STOP codon.

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

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-9

LCA-9

male

Belgium

LCA

yes

no

Exon 39

c.5344C>T

p.Arg1782X

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Direct sequencing (Sanger)