Variant ID	Exon
178	Intron 21

RNA effect	NetGene2	BDGP
splicing change

This substitution is located in the acceptor splice site of intron 21. The consequence of this change is not predictable, but a skip of exon 22 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-20

LCA-20

female

Belgium

LCA

unknown

no

Intron 21

c.2218-2A>C

p.?

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Direct sequencing (Sanger)