Variant ID	Exon	dbSNP ID
23	Exon 16	rs62640579

Domains	RNA effect
TM I,  CC I	RNA stability

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

27242

27242

female

Canada

LCA

yes

no

Exon 16

c.1550delT

p.Leu517X

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Allele-specific PCR

den Hollander (2006)