Variant ID	Exon
189	Exon 18

RNA effect	NetGene2	BDGP
splicing change

Synonymous substitution. Codon AAG changed to AAA. Frequencies of Lys-codons in the human genome: AAG (0.575) / AAA (0.425). This variation does not alter the protein sequence, but several splice site prediction servers predict an altered splicing pattern (loss of donor splice site of exon 18).

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-26

LCA-26

female

Belgium

LCA

yes

no

Exon 18

c.1824G>A

p.=

Direct sequencing (Sanger)

Exon 38

c.5081T>C

p.Leu1694Pro

Direct sequencing (Sanger)