Variant ID	Exon
176	Intron 13

RNA effect	NetGene2	BDGP
splicing change

This substitution is located in the donor splice site of intron 13. The consequence of this change is not predictable, but a skip of exon 13 is very likely.

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-19

LCA-19

male

Belgium

LCA

yes

no

Intron 13

c.1189+1G>A

p.?

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Direct sequencing (Sanger)