Variant ID	Exon
148	Exon 25

Domains	RNA effect
SMC,  CC IV	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-4

LCA-4

female

Belgium

LCA

unknown

no

Exon 25

c.2695C>T

p.Gln899X

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Direct sequencing (Sanger)